Disease phenotype | Item in this table | References | Gene symbol (chromosome)
protein |
| Spinocerebellar ataxia 1 - (AD) | 13.1 | | Jackson JF, Currier RD, Terasaki PI, Morton NE. Spinocerebellar ataxia and HLA linkage: risk prediction by HLA typing. N Engl J Med. 1977 May 19;296(20):1138-41. (2063871) | | Zoghbi HY, Jodice C, Sandkuijl LA, Kwiatkowski TJ Jr, McCall AE, Huntoon SA, Lulli P, Spadaro M, Litt M, Cann HM, et al. The gene for autosomal dominant spinocerebellar ataxia (SCA1) maps telomeric to the HLA complex and is closely linked to the D6S89 locus in three large kindreds. Am J Hum Genet. 1991 Jul;49(1):23-30. (7951322) | | Khati C, Stevanin G, Durr A, Chneiweiss H, Belal S, Seck A, Cann H, Brice A, Agid Y. Genetic heterogeneity of autosomal dominant cerebellar ataxia type 1: clinical and genetic analysis of 10 French families. Neurology. 1993 Jun;43(6):1131-7. (8358429) | | Orr HT, Chung MY, Banfi S, Kwiatkowski TJ Jr, Servadio A, Beaudet AL, McCall AE, Duvick LA, Ranum LP, Zoghbi HY. Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1. Nat Genet. 1993 Jul;4(3):221-6. (857157) | | Banfi S, Servadio A, Chung MY, Kwiatkowski TJ Jr, McCall AE, Duvick LA, Shen Y, Roth EJ, Orr HT, Zoghbi HY. Identification and characterization of the gene causing type 1 spinocerebellar ataxia. Nat Genet. 1994 Aug;7(4):513-20. (8170557) |
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| Spinocerebellar ataxia 2 - (AD) | 13.2 | | Auburger G, Diaz GO, Capote RF, Sanchez SG, Perez MP, del Cueto ME, Meneses MG, Farrall M, Williamson R, Chamberlain S, et al. Autosomal dominant ataxia: genetic evidence for locus heterogeneity from a Cuban founder-effect population. Am J Hum Genet. 1990 Jun;46(6):1163-77. (1971152) | | Gispert S, Twells R, Orozco G, Brice A, Weber J, Heredero L, Scheufler K, Riley B, Allotey R, Nothers C, et al. Chromosomal assignment of the second locus for autosomal dominant cerebellar ataxia (SCA2) to chromosome 12q23-24.1. Nat Genet. 1993 Jul;4(3):295-9. (8358438) | | Pulst SM, Nechiporuk A, Nechiporuk T, Gispert S, Chen XN, Lopes-Cendes I, Pearlman S, Starkman S, Orozco-Diaz G, Lunkes A, DeJong P, Rouleau GA, Auburger G, Korenberg JR, Figueroa C, Sahba S. Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2. Nat Genet. 1996 Nov;14(3):269-76. (8896555) | | Sanpei K, Takano H, Igarashi S, Sato T, Oyake M, Sasaki H, Wakisaka A, Tashiro K, Ishida Y, Ikeuchi T, Koide R, Saito M, Sato A, Tanaka T, Hanyu S, Takiyama Y, Nishizawa M, Shimizu N, Nomura Y, Segawa M, Iwabuchi K, Eguchi I, Tanaka H, Takahashi H, Tsuji S. Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT. Nat Genet. 1996 Nov;14(3):277-84. (8896556) | | Imbert G, Saudou F, Yvert G, Devys D, Trottier Y, Garnier JM, Weber C, Mandel JL, Cancel G, Abbas N, Durr A, Didierjean O, Stevanin G, Agid Y, Brice A. Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats. Nat Genet. 1996 Nov;14(3):285-91. (8896557) |
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| Spinocerebellar ataxia 3 (Machado-Joseph disease) - (AD) | 13.3 | | Takiyama Y, Nishizawa M, Tanaka H, Kawashima S, Sakamoto H, Karube Y, Shimazaki H, Soutome M, Endo K, Ohta S, et al. The gene for Machado-Joseph disease maps to human chromosome 14q. Nat Genet. 1993 Jul;4(3):300-4. (8358439) | | Kawaguchi Y, Okamoto T, Taniwaki M, Aizawa M, Inoue M, Katayama S, Kawakami H, Nakamura S, Nishimura M, Akiguchi I, et al. CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1. Nat Genet. 1994 Nov;8(3):221-8. (7874163) | | Stevanin G, Le Guern E, Ravise N, Chneiweiss H, Durr A, Cancel G, Vignal A, Boch AL, Ruberg M, Penet C, et al. A third locus for autosomal dominant cerebellar ataxia type I maps to chromosome 14q24.3-qter: evidence for the existence of a fourth locus. Am J Hum Genet. 1994 Jan;54(1):11-20. (8279460) |
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| Spinocerebellar ataxia 4 - (AD) | 13.4 | | Flanigan K, Gardner K, Alderson K, Galster B, Otterud B, Leppert MF, Kaplan C, Ptacek LJ. Autosomal dominant spinocerebellar ataxia with sensory axonal neuropathy (SCA4): clinical description and genetic localization to chromosome 16q22.1. Am J Hum Genet. 1996 Aug;59(2):392-9. (12796826) | | Hellenbroich, Y.; Bubel, S.; Pawlack, H.; Opitz, S.; Vieregge, P.; Schwinger, E.; Zuhlke, C. : Refinement of the spinocerebellar ataxia type 4 locus in a large German family and exclusion of CAG repeat expansions in this region. J. Neurol. 250: 668-671, 2003. (8755926) |
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| Spinocerebellar ataxia 5 - (AD) | 13.5 | | Ranum LP, Schut LJ, Lundgren JK, Orr HT, Livingston DM. Spinocerebellar ataxia type 5 in a family descended from the grandparents of President Lincoln maps to chromosome 11. Nat Genet. 1994 Nov;8(3):280-4. (16429157) | | Ikeda, Y.; Dick, K. A.; Weatherspoon, M. R.; Gincel, D.; Armbrust, K. R.; Dalton, J. C.; Stevanin, G.; Durr, A.; Zuhlke, C.; Burk, K.; Clark, H. B.; Brice, A.; Rothstein, J. D.; Schut, L. J.; Day, J. W.; Ranum, L. P. W. : Spectrin mutations cause spinocerebellar ataxia type 5. Nature Genet. 38: 184-190, 2006. (7874171) |
| | Spectrin, Beta, Nonerythrocytic, 2
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| Spinocerebellar ataxia 6 - (AD) | 13.6 | | Zhuchenko O, Bailey J, Bonnen P, Ashizawa T, Stockton DW, Amos C, Dobyns WB, Subramony SH, Zoghbi HY, Lee CC. Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel. Nat Genet. 1997 Jan;15(1):62-9. (8988170) | | Jodice C, Mantuano E, Veneziano L, Trettel F, Sabbadini G, Calandriello L, Francia A, Spadaro M, Pierelli F, Salvi F, Ophoff RA, Frants RR, Frontali M. Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to CAG repeat expansion in the CACNA1A gene on chromosome 19p. Hum Mol Genet. 1997 Oct;6(11):1973-8. (9302278) |
| | Calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
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| Spinal cerebellarataxia 7 (olivopontocerebellar atrophy III) - (AD) | 13.7 | | Benomar A, Krols L, Stevanin G, Cancel G, LeGuern E, David G, Ouhabi H, Martin JJ, Durr A, Zaim A, et al. The gene for autosomal dominant cerebellar ataxia with pigmentary macular dystrophy maps to chromosome 3p12-p21.1. Nat Genet. 1995 May;10(1):84-8. (7647798) | | Gouw LG, Kaplan CD, Haines JH, Digre KB, Rutledge SL, Matilla A, Leppert M, Zoghbi HY, Ptacek LJ. Retinal degeneration characterizes a spinocerebellar ataxia mapping to chromosome 3p. Nat Genet. 1995 May;10(1):89-93. (7647799) | | David G, Durr A, Stevanin G, Cancel G, Abbas N, Benomar A, Belal S, Lebre AS, Abada-Bendib M, Grid D, Holmberg M, Yahyaoui M, Hentati F, Chkili T, Agid Y, Brice A. Related Articles, Links Molecular and clinical correlations in autosomal dominant cerebellar ataxia with progressive macular dystrophy (SCA7). Hum Mol Genet. 1998 Feb;7(2):165-70. (9425222) |
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| Spinocerebellar ataxia 8 - (AD) | 13.8 | | Koob MD, Moseley ML, Schut LJ, Benzow KA, Bird TD, Day JW, Ranum LP. An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8) Nat Genet. 1999 Apr;21(4):379-84. (10192387) |
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| Spinocerebellar ataxia 10 - (AD) | 13.9 | | Zu L, Figueroa KP, Grewal R, Pulst SM. Mapping of a new autosomal dominant spinocerebellar ataxia to chromosome 22. Am J Hum Genet. 1999 Feb;64(2):594-9. (9973298) |
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| Spinocerebellar ataxia 11 - (AD) | 13.10 | | Worth PF, Giunti P, Gardner-Thorpe C, Dixon PH, Davis MB, Wood NW. Autosomal dominant cerebellar ataxia type III: linkage in a large British family to a 7.6-cM region on chromosome 15q14-21.3. Am J Hum Genet. 1999 Aug;65(2):420-6. (10417284) | | Houlden H, Johnson J, Gardner-Thorpe C, Lashley T, Hernandez D, Worth P, Singleton AB, Hilton DA, Holton J, Revesz T, Davis MB, Giunti P, Wood NW. Mutations in TTBK2, encoding a kinase implicated in tau phosphorylation, segregate with spinocerebellar ataxia type 11. Nat Genet. 2007 Dec;39(12):1434-6. Epub 2007 Nov 25. (18037885) |
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| Spinocerebellar ataxia 12 - (AD) | 13.11 | | Holmes SE, O'Hearn EE, McInnis MG, Gorelick-Feldman DA, Kleiderlein JJ, Callahan C, Kwak NG, Ingersoll-Ashworth RG, Sherr M, Sumner AJ, Sharp AH, Ananth U, Seltzer WK, Boss MA, Vieria-Saecker AM, Epplen JT, Riess O, Ross CA, Margolis RL. Expansion of a novel CAG trinucleotide repeat in the 5' region of PPP2R2B is associated with SCA12. Nat Genet. 1999 Dec;23(4):391-2. (10581021) | | Fujigasaki, H.; Verma, I. C.; Camuzat, A.; Margolis, R. L.; Zander, C.; Lebre, A.-S.; Jamot, L.; Saxena, R.; Anand, I.; Holmes, S. E.; Ross, C. A.; Durr, A.; Brice, A. : SCA12 is a rare locus for autosomal dominant cerebellar ataxia: a study of an Indian family. Ann. Neurol. 49: 117-121, 2001. (11198281) |
| | Protein phosphatase 2 regulatory subunit B, beta isoform
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| Spinocerebellar ataxia 13 - (AD) | 13.12 | | Herman-Bert A, Stevanin G, Netter JC, Rascol O, Brassat D, Calvas P, Camuzat A, Yuan Q, Schalling M, Durr A, Brice A. Mapping of spinocerebellar ataxia 13 to chromosome 19q13.3-q13.4 in a family with autosomal dominant cerebellar ataxia and mental retardation. Am J Hum Genet. 2000 Jul;67(1):229-35. Epub 2000 May 11. (10820125) | | Waters, M. F.; Minassian, N. A.; Stevanin, G.; Figueroa, K. P.; Bannister, J. P. A.; Nolte, D.; Mock, A. F.; Evidente, V. G. H.; Fee, D. B.; Muller, U.; Durr, A.; Brice, A.; Papazian, D. M.; Pulst, S. M. : Mutations in voltage-gated potassium channel KCNC3 cause degenerative and developmental nervous system phenotypes. Nature Genet. 38: 447-451, 2006. (16501573) |
| | Potassium voltage-gated channel, Shaw-related subfamily, member 3
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| Spinocerebellar ataxia 14 - (AD) | 13.13 | | Nishizawa, M.; Kaneko, J.; Tanaka, H.; Tsuji, S.; Tashiro, K. : A novel locus for dominant cerebellar ataxia (SCA14) maps to a 10.2-cM interval flanked by D19S206 and D19S605 on chromosome 19q13.4-qter. Ann. Neurol. 48: 156-163, 2000. (15313841) | | Chen DH, Brkanac Z, Verlinde CL, Tan XJ, Bylenok L, Nochlin D, Matsushita M, Lipe H, Wolff J, Fernandez M, Cimino PJ, Bird TD, Raskind WH. Related Articles, Links Free in PMC Missense mutations in the regulatory domain of PKC gamma: a new mechanism for dominant nonepisodic cerebellar ataxia. Am J Hum Genet. 2003 Apr;72(4):839-49. Epub 2003 Mar 17. (10939565) | | Stevanin, G.; Hahn, V.; Lohmann, E.; Bouslam, N.; Gouttard, M.; Soumphonphakdy, C.; Welter, M.-L.; Ollagnon-Roman, E.; Lemainque, A.; Ruberg, M.; Brice, A.; Durr, A. : Mutation in the catalytic domain of protein kinase C gamma and extension of the phenotype associated with spinocerebellar ataxia type 14. Arch. Neurol. 61: 1242-1248, 2004. (12644968) |
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| Spinocerebellar ataxia 15 - (AD) | 13.14 | | Knight, M. A.; Kennerson, M. L.; Anney, R. J.; Matsuura, T.; Nicholson, G. A.; Salimi-Tari, P.; Gardner, R. J. M.; Storey, E.; Forrest, S. M. : Spinocerebellar ataxia type 15 (SCA15) maps to 3p24.2-3pter: exclusion of the ITPR1 gene, the human orthologue of an ataxic mouse mutant. Neurobiol. Dis. 13: 147-157, 2003. (12828938) | | van de Leemput, J.; Chandran, J.; Knight, M. A.; Holtzclaw, L. A.; Scholz, S.; Cookson, M. R.; Houlden, H.; Gwinn-Hardy, K.; Fung, H.-C.; Lin, X.; Hernandez, D.; Simon-Sanchez, J.; and 11 others : Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans. PLoS Genet. 3: e108, 2007. (17590087) |
| | Inositol 1,4,5-triphosphate receptor type 1
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| Spinocerebellar ataxia 17 (Huntington disease-like) - (AD) | 13.15 | | Koide, R.; Kobayashi, S.; Shimohata, T.; Ikeuchi, T.; Maruyama, M.; Saito, M.; Yamada, M.; Takahashi, H.; Tsuji, S. : A neurological disease caused by an expanded CAG trinucleotide repeat in the TATA-binding protein gene: a new polyglutamine disease? Hum. Molec. Genet. 8: 2047-2053, 1999. (10484774) | | Zuhlke, C.; Hellenbroich, Y.; Dalski, A.; Kononowa, N.; Hagenah, J.; Vieregge, P.; Riess, O.; Klein, C.; Schwinger, E. : Different types of repeat expansion in the TATA-binding protein gene are associated with a new form of inherited ataxia. Europ. J. Hum. Genet. 9: 160-164, 2001. (11313753) |
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| Spinocerebellar ataxia 18 - (AD) | 13.16 | | Brkanac, Z.; Fernandez, M.; Matsushita, M.; Lipe, H.; Wolff, J.; Bird, T. D.; Raskind, W. H. : Autosomal dominant sensory/motor neuropathy with ataxia (SMNA): linkage to chromosome 7q22-q32. Am. J. Med. Genet. 114: 450-457, 2002. (11992570) | | Brkanac, Z., Spencer, D., Shendure, J., Robertson, P. D., Matsushita, M., Vu, T., Bird, T. D., Olson, M. V., Raskind, W. H. IFRD1 is a candidate gene for SMNA on chromosome 7q22-q23. Am. J. Hum. Genet. 84: 692-697, 2009. (19409521) |
| | Interferon-related developmental regulator 1
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| Spinocerebellar ataxia 19 - (AD) | 13.17 | | Verbeek, D. S.; Schelhaas, J. H.; Ippel, E. F.; Beemer, F. A.; Pearson, P. L.; Sinke, R. J. : Identification of a novel SCA locus (SCA19) in a Dutch autosomal dominant cerebellar ataxia family on chromosome region 1p21-q21. Hum. Genet. 111: 388-393, 2002. (12384780) | | Schelhaas, H. J.; Verbeek, D. S.; Van de Warrenburg, B. P. C.; Sinke, R. J. : SCA19 and SCA22: evidence for one locus with a worldwide distribution. (Letter) Brain 127: e6, 2004. Note: Electronic Article. (14679032) | | Duarri, A., Jezierska, J., Fokkens, M., Meijer, M., Schelhaas, H. J., den Dunnen, W. F. A., van Dijk, F., Verschuuren-Bemelmans, C., Hageman, G., van de Vlies, P., Kusters, B., van de Warrenburg, B. P., Kremer, B., Wijmenga, C., Sinke, R. J., Swertz, M. A., Kampinga, H. H., Boddeke, E., Verbeek, D. S. Mutations in potassium channel KCND3 cause spinocerebellar ataxia type 19. Ann. Neurol. 72: 870-880, 2012 (23280837) | | Lee, Y.-C., Durr, A., Majczenko, K., Huang, Y.-H., Liu, Y.-C., Lien, C.-C., Tsai, P.-C., Ichikawa, Y., Goto, J., Monin, M.-L., Li, J. Z., Chung, M.-Y., and 10 others. Mutations in KCND3 cause spinocerebellar ataxia type 22. Ann. Neurol. 72: 859-869, 2012. (23280838) |
| | Potassium voltage-gated channel, Shal-related subfamily, member 3
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| Spinocerebellar ataxia 20 - (AD) | 13.18 | | Knight, M. A.; Gardner, R. J. M.; Bahlo, M.; Matsuura, T.; Dixon, J. A.; Forrest, S. M.; Storey, E. : Dominantly inherited ataxia and dysphonia with dentate calcification: spinocerebellar ataxia type 20. Brain 127: 1172-1181, 2004. (14998916) |
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| Spinocerebellar ataxia 21 - (AD) | 13.19 | | Vuillaume, I.; Devos, D.; Schraen-Maschke, S.; Dina, C.; Lemainque, A.; Vasseur, F.; Bocquillon, G.; Devos, P.; Kocinski, C.; Marzys, C.; Destee, A.; Sablonniere, B. : A new locus for spinocerebellar ataxia (SCA21) maps to chromosome 7p21.3-p15.1. Ann. Neurol. 52: 666-670, 2002. (12402269) | | Delplanque, J., Devos, D., Huin, V., Genet, A., Sand, O., Moreau, C., Goizet, C., Charles, P., Anheim, M., Monin, M. L., Buee, L., Destee, A., and 9 others. TMEM240 mutations cause spinocerebellar ataxia 21 with mental retardation and severe cognitive impairment. Brain 137: 2657-2663, 2014. (25070513) |
| | Transmembrane protein 240
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| Spinocerebellar ataxia 22 - (AD) | 13.20 | | Chung MY, Lu YC, Cheng NC, Soong BW. A novel autosomal dominant spinocerebellar ataxia (SCA22) linked to chromosome 1p21-q23. Brain. 2003 Jun;126(Pt 6):1293-9. (12764052) |
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| Spinocerebellar ataxia 23 - ( AD) | 13.21 | | Verbeek, D. S.; van de Warrenburg, B. P.; Wesseling, P.; Pearson, P. L.; Kremer, H. P.; Sinke, R. J. : Mapping of the SCA23 locus involved in autosomal dominant cerebellar ataxia to chromosome region 20p13-12.3. Brain 127: 2551-2557, 2004. (15306549) | | Bakalkin, G., Watanabe, H., Jezierska, J., Depoorter, C., Verschuuren-Bemelmans, C., Bazov, I., Artemenko, K. A., Yakovleva, T., Dooijes, D., Van de Warrenburg, B. P. C., Zubarev, R. A., Kremer, B., Knapp, P. E., Hauser, K. F., Wijmenga, C., Nyberg, F., Sinke, R. J., Verbeek, D. S. Prodynorphin mutations cause the neurodegenerative disorder spinocerebellar ataxia type 23. Am. J. Hum. Genet. 87: 593-603, 2010. Note: Erratum: Am. J. Hum. Genet. 87: 736 only, 2010. (21035104) |
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| Spinocerebellar ataxia 25 - (AD) | 13.22 | | Stevanin, G.; Bouslam, N.; Thobois, S.; Azzedine, H.; Ravaux, L.; Boland, A.; Schalling, M.; Broussolle, E.; Durr, A.; Brice, A. : Spinocerebellar ataxia with sensory neuropathy (SCA25) maps to chromosome 2p. Ann. Neurol. 55: 97-104, 2004. (14705117) |
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| Spinocerebellar ataxia 26 - (AD) | 13.23 | | Yu, G.-Y.; Howell, M. J.; Roller, M. J.; Xie, T.-D.; Gomez, C. M. : Spinocerebellar ataxia type 26 maps to chromosome 19p13.3 adjacent to SCA6. Ann. Neurol. 57: 349-354, 2005. (15732118) | | Hekman, K. E., Yu, G.-Y., Brown, C. D., Zhu, H., Du, X., Gervin, K., Undlien, D. E., Peterson, A., Stevanin, G., Clark, H. B., Pulst, S. M., Bird, T. D., White, K. P., Gomez, C. M. A conserved eEF2 coding variant in SCA26 leads to loss of translational fidelity and increased susceptibility to proteostatic insult. Hum. Molec. Genet. 21: 5472-5483, 2012. (23001565) |
| | Eukaryotic translation elongation factor 2
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| Spinocerebellar ataxia 27A - (AD) | 13.24 | | van Swieten, J. C.; Brusse, E.; de Graaf, B. M.; Krieger, E.; van de Graaf, R.; de Koning, I.; Maat-Kievit, A.; Leegwater, P.; Dooijes, D.; Oostra, B. A.; Heutink, P. : A mutation in the fibroblast growth factor 14 gene is associated with autosomal dominant cerebral (sic) ataxia. Am. J. Hum. Genet. 72: 191-199, 2003. (12489043) | | Dalski, A.; Atici, J.; Kreuz, F. R.; Hellenbroich, Y.; Schwinger, E.; Zuhlke, C. : Mutation analysis in the fibroblast growth factor 14 gene: frameshift mutation and polymorphisms in patients with inherited ataxias. Europ. J. Hum. Genet. 13: 118-120, 2005. (15470364) |
| | Fibroblast growth factor 14
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| Spinocerebellar ataxia 27B, late onset - (AD) | 13.25 | | Pellerin, D., Danzi, M. C., Wilke, C., Renaud, M., Fazal, S., Dicaire, M.-J., Scriba, C. K., Ashton, C., Yanick, C., Beijer, D., Rebelo, A., Rocca, C., and 40 others. Deep intronic FGF14 GAA repeat expansion in late-onset cerebellar ataxia. New Eng. J. Med. 388: 128-141, 2023.[PubMed: 36516086] (36516086) |
| | Fibroblast growth factor 14
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| Spinocerebellar ataxia 28 - (AD) | 13.26 | | Cagnoli, C.; Mariotti, C.; Taroni, F.; Seri, M.; Brussino, A.; Michielotto, C.; Grisoli, M.; Di Bella, D.; Migone, N.; Gellera, C.; Di Donato, S.; Brusco, A. : SCA28, a novel form of autosomal dominant cerebellar ataxia on chromosome 18p11.22-q11.2. Brain 129: 235-242, 2006. (16251216) | | Di Bella, D., Lazzaro, F., Brusco, A., Plumari, M., Battaglia, G., Pastore, A., Finardi, A., Cagnoli, C., Tempia, F., Frontali, M., Veneziano, L., Sacco, T., and 14 others. Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28. Nature Genet. 42: 313-321, 2010. (20208537) |
| | AFG3 ATPase family gene 3-like 2 (S. cerevisiae) 1
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| Spinocerebellar ataxia 29, congenital nonprogressive - (AD) | 13.27 | | Dudding, T. E.; Friend, K.; Schofield, P. W.; Lee, S.; Wilkinson, I. A.; Richards, R. I. : Autosomal dominant congenital non-progressive ataxia overlaps with the SCA15 locus. Neurology 63: 2288-2292, (15623688) |
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| Spinocerebellar ataxia 30 - (AD) | 13.28 | | Storey, E., Bahlo, M., Fahey, M., Sisson, O., Lueck, C. J., Gardner, R. J. A new dominantly inherited pure cerebellar ataxia, SCA 30. J. Neurol. Neurosurg. Psychiatry 80: 408-411, 2009. (18996908) |
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| Spinocerebellar ataxia 31 - (AD) | 13.29 | | Nagaoka, U.; Takashima, M.; Ishikawa, K.; Yoshizawa, K.; Yoshizawa, T.; Ishikawa, M.; Yamawaki, T.; Shoji, S.; Mizusawa, H. A gene on SCA4 locus causes dominantly inherited pure cerebellar ataxia. Neurology 54: 1971-1975, 2000. (10822439) | | Sato, N., Amino, T., Kobayashi, K., Asakawa, S., Ishiguro, T., Tsunemi, T., Takahashi, M., Matsuura, T., Flanigan, K. M., Iwasaki, S., Ishino, F., Saito, Y., and 9 others Spinocerebellar ataxia type 31 is associated with 'inserted' penta-nucleotide repeats containing (TGGAA)n. Am. J. Hum. Genet. 85: 544-557, 2009. (19878914) |
| | Brain expressed, associated with Nedd42
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| | Thymidine kinase 2, mitochondrial
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| Spinocerebellar ataxia 32 (with azoospermia) - (AD) | 13.30 | | Jiang, H., Zhu, H.-P., Gomez, C. M. 2010. SCA32: an autosomal dominant cerebellar ataxia with azoospermia maps to chromosome 7q32-q33. (Abstract) Mov. Disord. 25: S192 only,. (Abstract) |
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| Spinocerebellar ataxia 34 - (AD) | 13.31 | | Cadieux-Dion, M., Turcotte-Gauthier, M., Noreau, A., Martin, C., Meloche, C., Gravel, M., Drouin, C. A., Rouleau, G. A., Nguyen, D. K., Cossette, P. Expanding the clinical phenotype associated with ELOVL4 mutation: study of a large French-Canadian family with autosomal dominant spinocerebellar ataxia and erythrokeratodermia. JAMA Neurol. 71: 470-475, 2014. (24566826) |
| | ELOVL fatty acid elongase 4
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| Spinocerebellar ataxia 35 - (AD) | 13.32 | | Wang, J. L., Yang, X., Xia, K., Hu, Z. M., Weng, L., Jin, X., Jiang, H., Zhang, P., Shen, L., Guo, J. F., Li, N., Li, Y. R., and 9 others. TGM6 identified as a novel causative gene of spinocerebellar ataxias using exome sequencing. Brain 133: 3510-3518, 2010. (22554020) | | Li,M, Pang, S.Y.Y.
Song, Y., Kung, M. H. W., Ho, S.-L., Sham, P.-C. Whole exome sequencing identifies a novel mutation in the transglutaminase 6 gene for spinocerebellar ataxia in a Chinese family. Clin. Genet. 83: 269-273, 2013. (21106500) |
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| Spinocerebellar ataxia 36 - (AD) | 13.33 | | Kobayashi, H., Abe, K., Matsuura, T., Ikeda, Y., Hitomi, T., Akechi, Y., Habu, T., Liu, W., Okuda, H., Koizumi, A. Expansion of intronic GGCCTG hexanucleotide repeat in NOP56 causes SCA36, a type of spinocerebellar ataxia accompanied by motor neuron involvement. Am. J. Hum. Genet. 89: 121-130, 2011. (21683323) |
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| Spinocerebellar ataxia 37 - (AD) | 13.34 | | Serrano-Munuera, C., Corral-Juan, M., Stevanin, G et al . 2013. New subtype of spinocerebellar ataxia with altered vertical eye movements mapping to chromosome 1p32. JAMA Neurol. 70: 764-771, 2013. (23700170) |
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| Spinocerebellar ataxia 38 - (AD) | 13.35 | | Di Gregorio, E., Borroni, B., Giorgio, E., Lacerenza, D., Ferrero, M., Lo Buono, N., Ragusa, N., Mancini, C., Gaussen, M., Calcia, A., Mitro, N., Hoxha, E., and 23 others. ELOVL5 mutations cause spinocerebellar ataxia 38. Am. J. Hum. Genet. 95: 209-217, 2014. (25065913) |
| | ELOVL fatty acid elongase 5
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| Spinocerebellar ataxia 40 - (AD) | 13.36 | | Tsoi, H., Yu, A. C. S., Chen, Z. S., Ng, N. K. N., Chan, A. Y. Y., Yuen, L. Y. P., Abrigo, J. M., Tsang, S. Y., Tsui, S. K. W., Tong, T. M. F., Lo, I. F. M., Lam, S. T. S., Mok, V. C. T., Wong, L. K. S., Ngo, J. C. K., Lau, K.-F., Chan, T.-F., Chan, H. Y. E. A novel missense mutation in CCDC88C activates the JNK pathway and causes a dominant form of spinocerebellar ataxia. J. Med. Genet. 51: 590-595, 2014. (25062847) |
| | Coiled-coil domain containing 88C
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| Spinocerebellar ataxia 41 - (AD) | 13.37 | | Fogel, B. L., Hanson, S. M., Becker, E. B. E. Do mutations in the murine ataxia gene TRPC3 cause cerebellar ataxia in humans? Mov. Disord. 30: 284-286, 2015. (25477146) |
| | Transient receptor potential cation channel subfamily C member 3
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| Spinocerebellar ataxia 42 - (AD) | 13.38 | | Coutelier, M., Blesneac, I., Monteil, A., Monin, M.-L., Ando, K., Mundwiller, E., Brusco, A., Le Ber, I., Anheim, M., Castrioto, A., Duyckaerts, C., Brice, A., Durr, A., Lory, P., Stevanin, G. A recurrent mutation in CACNA1G alters Cav3.1 T-type calcium-channel conduction and causes autosomal-dominant cerebellar ataxia. Am. J. Hum. Genet. 97: 726-737, 2015. (26456284) | | Morino, H., Matsuda, Y., Mugurama, K., Miyamoto, R., Ohsawa, R., Ohtake, T., Otobe, R., Watanabe, M., Maruyama, H., Hashimoto, K., Kawakami, H. A mutation in the low voltage-gated calcium channel CACNA1G alters the physiological properties of the channel, causing spinocerebellar ataxia. Molec. Brain 8: 89, 2015. Note: Electronic Article. (26715324) |
| | calcium voltage-gated channel subunit alpha1 G
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| Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits - (AD) | 13.39 | | Chemin, J., Siquier-Pernet, K., Nicouleau, M., Barcia, G., Ahmad, A., Medina-Cano, D., Hanein, S., Altin, N., Hubert, L., Bole-Feysot, C., Fourage, C., Nitschke, P., and 17 others. De novo mutation screening in childhood-onset cerebellar atrophy identifies gain-of-function mutations in the CACNA1G calcium channel gene. Brain 141: 1998-2013, 2018. (29878067) |
| | calcium voltage-gated channel subunit alpha1 G
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| Spinocerebellar Ataxia, type 43 - (AD) | 13.40 | | Depondt, C., Donatello, S., Rai, M., Wang, F. c., Manto, M., Simonis, N., Pandolfo, M. MME mutation in dominant spinocerebellar ataxia with neuropathy (SCA43). Neurol. Genet. 2: e94, 2016. Note: Electronic Article. (27583304) |
| | Membrane metallo-endopeptidase
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| Spinocerebellar ataxia 44 - (AD) | 13.41 | | Watson, L. M., Bamber, E., Schnekenberg, R. P., Williams, J., Bettencourt, C., Jayawant, S., Lickiss, J., Fawcett, K., Clokie, S., Wallis, Y., Clouston, P., Sims, D., Houlden, H., Becker, E. B. E., Nemeth, A. H. Dominant mutations in GRM1 cause spinocerebellar ataxia type 44. Am. J. Hum. Genet. 101: 451-458, 2017. Note: Erratum: Am. J. Hum. Genet. 101: 866 only, 2017. (28886343) |
| | Glutamate receptor metabotropic, 1
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| Spinocerebellar ataxia 45 - (AD) | 13.42 | | Nibbeling, E. A. R., Duarri, A., Verschuuren-Bemelmans, C. C., Fokkens, M. R., Karjalainen, J. M., Smeets, C. J. L. M., de Boer-Bergsma, J. J., van der Vries, G., Dooijes, D., Bampi, G. B., van Diemen, C., Brunt, E., and 9 others. Exome sequencing and network analysis identifies shared mechanisms underlying spinocerebellar ataxia. Brain 140: 2860-2878, 2017. (29053796) |
| | Fat tumor suppressor, Drosophila, Homologh of, 2
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| Spinocerebellar ataxia 46 - (AD) | 13.43 | | Nibbeling, E. A. R., Duarri, A., Verschuuren-Bemelmans, C. C., Fokkens, M. R., Karjalainen, J. M., Smeets, C. J. L. M., de Boer-Bergsma, J. J., van der Vries, G., Dooijes, D., Bampi, G. B., van Diemen, C., Brunt, E., and 9 others. Exome sequencing and network analysis identifies shared mechanisms underlying spinocerebellar ataxia. Brain 140: 2860-2878, 2017. (29053796) |
| | Phospholipase D family, member 3
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| Spinocerebellar ataxia 47 - (AD) | 13.44 | | Gennarino, V. A., Palmer, E. E., McDonell, L. M., Wang, L., Adamski, C. J., Koire, A., See, L., Chen, C.-A., Schaaf, C. P., Rosenfeld, J. A., Panzer, J. A., Moog, U. A mild PUM1 mutation is associated with adult-onset ataxia, whereas haploinsufficiency causes developmental delay and seizures. Cell 172: 924-936, 2018. (29474920) |
| | Pumilio, Drosophila, Homologh of, 1
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| Spinocerebellar ataxia 48 - (AD) | 13.45 | | Genis, D., Ortega-Cubero, S., San Nicolas, H., Corral, J., Gardenyes, J., de Jorge, L., Lopez, E., Campos, B., Lorenzo, E., Tonda, R., Beltran, S., Negre, M., and 9 others. Heterozygous STUB1 mutation causes familial ataxia with cognitive affective syndrome (SCA48). Neurology 91: e1988-e1998, 2018. Note: Electronic Article. (30381368) |
| | STIP1 homology and U-box containing protein 1
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| Spinocerebellar ataxia 49 - (AD) | 13.46 | | Corral-Juan, M., Casquero, P., Giraldo-Restrepo, N., Laurie, S., Martinez-Pineiro, A., Mateo-Montero, R. C., Ispierto, L., Vilas, D., Tolosa, E., Volpini, V., Alvarez-Ramo, R., Sanchez, I., Matilla-Duenas, A. New spinocerebellar ataxia subtype caused by SAMD9L mutation triggering mitochondrial dysregulation (SCA49). Brain Commun. 4: fcac030, 2022. (35310830) |
| | Sterile Alpha Motif Domain-Containing Protein 9-Like
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| Spinocerebellar ataxia 50 - (AD) | 13.47 | | Coutelier, M., Jacoupy, M., Janer, A., Renaud, F., Auger, N., Saripella, G.-V., Ancien, F., Pucci, F., Rooman, M., Gilis, D., Lariviere, R., Sgarioto, N., and 17 others. NPTX1 mutations trigger endoplasmic reticulum stress and cause autosomal dominant cerebellar ataxia. Brain 145: 1519-1534, 2022. [PubMed: 34788392 (34788392) | | Schoggl, J., Siegert, S., Boltshauser, E., Freilinger, M., Schmidt, W. M. A de novo missense NPTX1 variant in an individual with infantile-onset cerebellar ataxia. Mov. Disord. 37: 1774-1776, 2022. [PubMed: 35560436 (35560436) |
| | Pentraxin I, neuronal, NP1
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| Episodic ataxia type-2 ,and familial hemiplegic migraine - (AD) | 13.48 | | Ophoff RA, Terwindt GM, Vergouwe MN, van Eijk R, Oefner PJ, Hoffman SM, Lamerdin JE, Mohrenweiser HW, Bulman DE, Ferrari M, Haan J, Lindhout D, van Ommen GJ, Hofker MH, Ferrari MD, Frants RR. Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4. Cell. 1996 Nov 1;87(3):543-52. (17575281) | | Jodice C, Mantuano E, Veneziano L, Trettel F, Sabbadini G, Calandriello L, Francia A, Spadaro M, Pierelli F, Salvi F, Ophoff RA, Frants RR, Frontali M. Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to CAG repeat expansion in the CACNA1A gene on chromosome 19p. Hum Mol Genet. 1997 Oct;6(11):1973-8. (8898206) | | Jen JC, Graves TD, Hess EJ, Hanna MG, Griggs RC and Baloh RW. Primary episodic ataxias: diagnosis, pathogenesis and treatment. Brain 2007;130:2484-93. (9302278) |
| | Calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
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| Episodic ataxia type-3 - (AD) | 13.49 | | Steckley, J. L.; Ebers, G. C.; Cader, M. Z.; McLachlan, R. S. : An autosomal dominant disorder with episodic ataxia, vertigo, and tinnitus. Neurology 57: 1499-1502, 2001. (11673600) | | Jen JC, Graves TD, Hess EJ, Hanna MG, Griggs RC and Baloh RW. Primary episodic ataxias: diagnosis, pathogenesis and treatment. Brain 2007;130:2484-93. (17575281) |
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| Episodic ataxia type-5 - (AD) | 13.50 | | Escayg, A.; De Waard, M.; Lee, D. D.; Bichet, D.; Wolf, P.; Mayer, T.; Johnston, J.; Baloh, R.; Sander, T.; Meisler, M. H. : Coding and noncoding variation of the human calcium-channel beta(4)-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia. Am. J. Hum. Genet. 66: 1531-1539, 2000. (10762541) |
| | Calcium channel, voltage-dependent, beta 4 subunit
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| Episodic ataxia type-6 - (AD) | 13.51 | | Jen, J. C.; Wan, J.; Palos, T. P.; Howard, B. D.; Baloh, R. W. : Mutation in the glutamate transporter EAAT1 causes episodic ataxia, hemiplegia, and seizures. Neurology 65: 529-534, 2005. (16116111) | | de Vries, B.; Mamsa, H.; Stam, A. H.; Wan, J.; Bakker, S. L. M.; Vanmolkot, K. R. J.; Haan, J.; Terwindt, G. M.; Boon, E. M. J.; Howard, B. D.; Frants, R. R.; Baloh, R. W.; Ferrari, M. D.; Jen, J. C.; van den Maagdenberg, A. M. J. M. : Episodic ataxia associated with EAAT1 mutation C186S affecting glutamate reuptake. Arch Neurol. 2009 Jan;66(1):97-101. (19139306) |
| | EAAT1 (excitatory amino acid transporter type 1)
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| Episodic ataxia type-7 - (AD) | 13.52 | | Kerber KA, Jen JC, Lee H, Nelson SF, Baloh RW. A new episodic ataxia syndrome with linkage to chromosome 19q13. Arch Neurol. 2007 May;64(5):749-52. (17502476) |
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| Episodic ataxia type-9 - (AD) | 13.53 | | Liao, Y., Anttonen, A.-K., Liukkonen, E., Gaily, E., Maljevic, S., Schubert, S., Bellan-Koch, A., Petrou, S., Ahonen, V. E., Lerche, H., Lehesjoki, A.-E. SCN2A mutation associated with neonatal epilepsy, late-onset episodic ataxia, myoclonus, and pain. Neurology 75: 1454-1458, 2010.[PubMed: 20956790] (20956790) |
| | Sodium voltage-gated channel, alpha subunit 2; SCN2A
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| Acetazolamide responsive hereditary paroxysmal cerebellar ataxia - (AD) | 13.54 | | Vahedi K, Joutel A, Van Bogaert P, et al. A gene for hereditary paroxysmal cerebellar ataxia maps to chromosome 19p. Ann Neurol 1995;37:289- 293. (7695228) | | Von Brederlow B, Hahn AF, Koopman WJ, Ebers GC, Bulman DE. Mapping the gene for acetazolamide responsive hereditary paryoxysmal cerebellar ataxia to chromosome 19p. Hum Mol Genet. 1995 Feb;4(2):279-84. (7757080) |
| | Calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
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| Neurological impairment - (AD) | 13.55 | | Dutta D, Briere LC, Kanca O, Marcogliese PC, Walker MA, High FA, Vanderver A, Krier J, Carmichael N, Callahan C, Taft RJ, Simons C, Helman G, Network UD, Wangler MF, Yamamoto S, Sweetser DA, Bellen HJ. De novo mutations in TOMM70, a receptor of the mitochondrial import translocase, cause neurological impairment. Hum Mol Genet. 2020 Jun 3;29(9):1568-1579. doi: 10.1093/hmg/ddaa081. PMID: 32356556; PMCID: PMC7268787. (32356556) |
| | Translocase of Outer Mitochondrial Membrane 70
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| Ataxia-pancytopenia syndrome - (AD) | 13.56 | | Chen DH, Below JE, Shimamura A, Keel SB, Matsushita M, Wolff J, Sul Y, Bonkowski E, Castella M, Taniguchi T, Nickerson D, Papayannopoulou T, Bird TD, Raskind WH. Ataxia-Pancytopenia Syndrome Is Caused by Missense Mutations in SAMD9L. Am J Hum Genet. 2016 Jun 2;98(6):1146-1158. doi: 10.1016/j.ajhg.2016.04.009. PMID: 27259050; PMCID: PMC4908176. (27259050) |
| | Sterile Alpha Motif Domain-Containing Protein 9-Like
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| Friedreich ataxia 1 - (AR) | 13.57 | | Chamberlain S, Shaw J, Rowland A, Wallis J, South S, Nakamura Y, von Gabain A, Farrall M, Williamson R. Related Articles, Links Mapping of mutation causing Friedreich's ataxia to human chromosome 9. Nature. 1988 Jul 21;334(6179):248-50. (10543403) | | Campuzano V, Montermini L, Molto MD, Pianese L, Cossee M, Cavalcanti F, Monros E, Rodius F, Duclos F, Monticelli A, et al. Related Articles, Links Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science. 1996 Mar 8;271(5254):1423-7. (2899844) | | Delatycki, M. B.; Knight, M.; Koenig, M.; Cossee, M.; Williamson, R.; Forrest, S. M. : G130V, a common FRDA point mutation, appears to have arisen from a common founder. Hum. Genet. 105: 343-346, 1999. (8596916) |
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| Friedreich ataxia 2 - (AR) | 13.58 | | Christodoulou K, Deymeer F, Serdaro?lu P, Ozdemir C, Poda M, Georgiou DM, Ioannou P, Tsingis M, Zamba E, Middleton LT. Mapping of the second Friedreich's ataxia (FRDA2) locus to chromosome 9p23-p11: evidence for further locus heterogeneity. Neurogenetics. 2001 Jul;3(3):127-32. (11523563) |
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| Friedreich ataxia with selective vitamin E deficiency - (AR) | 13.59 | | Ben Hamida C, Doerflinger N, Belal S, Linder C, Reutenauer L, Dib C, Gyapay G, Vignal A, Le Paslier D, Cohen D, et al. Localization of Friedreich ataxia phenotype with selective vitamin E deficiency to chromosome 8q by homozygosity mapping. Nat Genet. 1993 Oct;5(2):195-200. (8252047) | | Gotoda T, Arita M, Arai H, Inoue K, Yokota T, Fukuo Y, Yazaki Y, Yamada N. Adult-onset spinocerebellar dysfunction caused by a mutation in the gene for the alpha-tocopherol-transfer protein. N Engl J Med. 1995 Nov 16;333(20):1313-8. (7566022) | | Ouahchi K, Arita M, Kayden H, Hentati F, Ben Hamida M, Sokol R, Arai H, Inoue K, Mandel JL, Koenig M. Ataxia with isolated vitamin E deficiency is caused by mutations in the alpha-tocopherol transfer protein. Nat Genet. 1995 Feb;9(2):141-5. (7719340) |
| | Tocopherol (alpha) transfer protein (ataxia (Friedreich-like) with vitamin E deficiency)
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| Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) - (AR) | 13.60 | | Nikali, K.; Isosomppi, J.; Lonnqvist, T.; Mao, J.; Suomalainen, A.; Peltonen, L. : Toward cloning of a novel ataxia gene: refined assignment and physical map of the IOSCA locus (SCA8) on 10q24. Genomics 39: 185-191, 1997. (16135556) | | Nikali K, Suomalainen A, Saharinen J, Kuokkanen M, Spelbrink JN, Lonnqvist T and Peltonen L. Infantile onset spinocerebellar ataxia is caused by recessive mutations in mitochondrial proteins Twinkle and Twinky. Hum Mol Genet 2005;14:2981-90. (9027505 ) |
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| Early onset ataxia with oculomotor apraxia and hypoalbunemia - (AR) | 13.61 | | Date, H.; Onodera, O.; Tanaka, H.; Iwabuchi, K.; Uekawa, K.; Igarashi, S.; Koike, R.; Hiroi, T.; Yuasa, T.; Awaya, Y.; Sakai, T.; and 9 others : Early-onset ataxia with ocular motor apraxia and hypoalbuminemia is caused by mutations in a new HIT superfamily gene. Nature Genet. 29: 184-188, 2001. (11586299) | | Moreira, M.-C.; Barbot, C.; Tachi, N.; Kozuka, N.; Uchida, E.; Gibson, T.; Mendonca, P.; Costa, M.; Barros, J.; Yanagisawa, T.; Watanabe, M.; Ikeda, Y.; Aoki, M.; Nagata, T.; Coutinho, P.; Sequeiros, J.; Koenig, M. : The gene mutated in ataxia-oculomotor apraxia 1 encodes the new HIT/Zn-finger protein aprataxin. Nature Genet. 29: 189-193, 2001. (11586300) |
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| Autosomal recessive spinocerebellar ataxia, 2 - (AR) | 13.62 | | Jobling, R. K., Assoum, M., Gakh, O., Blaser, S., Raiman, J. A., Mignot, C., Roze, E., Durr, A., Brice, A., Levy, N., Prasad, C., Paton, T., and 11 others. PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia. Brain 138: 1505-1517, 2015.[PubMed: 25808372 (25808372) |
| | Mitochondrial processing peptidase-alpha, KIAA0123
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| Autosomal recessive spinocerebellar ataxia, 3 - (AR) | 13.63 | | Bomont, P.; Watanabe, M.; Gershoni-Barush, R.; Shizuka, M.; Tanaka, M.; Sugano, J.; Guiraud-Chaumeil, C.; Koenig, M. : Homozygosity mapping of spinocerebellar ataxia with cerebellar atrophy and peripheral neuropathy to 9q33-34, and with hearing impairment and optic atrophy to 6p21-23. Europ. J. Hum. Genet. 8: 986-990, 2000. (11175288) |
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| Autosomal recessive spinocerebellar ataxia, 4 - (AR) | 13.64 | | Burmeister, M.; Li, S.; Leigh, R. J.; Bespalova, I. N.; Weber, J.; Swartz, B. : A new recessive syndrome of cerebellar ataxia with saccadic intrusions maps to 1p36. (Abstract) Am. J. Hum. Genet. 71 (suppl.): A528 only, 2002. (29518281) | | Gauthier, J., Meijer, I. A. Lessel, D., Mencacci, N. E., Krainc, D., Hempel, M., Tsiakas, K., Prokisch, H., Rossignol, E., Helm, M. H., Rodan, L. H., Karamchandani, J., and 11 others. Recessive mutations in VPS13D cause childhood onset movement disorders. Ann. Neurol. 83: 1089-1095, 2018. (29604224) | | Seong, E., Insolera, R., Dulovic, M., Kamsteeg, E.-J., Trinh, J., Bruggermann, N., Sandford, E., Li, S., Ozel, A. B., Li, J. Z., Jewett, T., Kievit, A. J. A., Munchau, A., Shakkottai, V., Klein, C., Collins, C. A., Lohmann, K., van de Warrenburg, B. P., Burmeister, M. Mutations in VPS13D lead to a new recessive ataxia with spasticity and mitochondrial defects. Ann. Neurol. 83: 1075-1088, 2018. (Abstract) |
| | Vacuolar protein sorting 37, Yeast, homolg of, A
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| Galloway-Mowat syndrome 1 Formerly Autosomal recessive spinocerebellar ataxia, 5 - (AR) | 13.65 | | Delague, V.; Bareil, C.; Bouvagnet, P.; Salem, N.; Chouery, E.; Loiselet, J.; Megarbane, A.; Claustres, M. : A new autosomal recessive non-progressive congenital cerebellar ataxia associated with mental retardation, optic atrophy, and skin abnormalities (CAMOS) maps to chromosome 15q24-q26 in a large consanguineous Lebanese Druze family. Neurogenetics 4: 23-27, 2002. (12030328) |
| | WD Repeat-Containing Protein 73
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| Autosomal recessive spinocerebellar ataxia, 6 - (AR) | 13.66 | | Tranebjaerg, L.; Teslovich, T. M.; Jones, M.; Barmada, M. M.; Fagerheim, T.; Dahl, A.; Escolar, D. M.; Trent, J. M.; Gillanders, E. M.; Stephan, D. A. : Genome-wide homozygosity mapping localizes a gene for autosomal recessive non-progressive infantile ataxia to 20q11-q13. Hum. Genet. 113: 293-295, 2003. (12811539) |
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| Autosomal recessive spinocerebellar ataxia, 7 - (AR) | 13.67 | | Breedveld, G. J.; van Wetten, B.; te Raa, G. D.; Brusse, E.; van Swieten, J. C.; Oostra, B. A.; Maat-Kievit, J. A. : A new locus for a childhood onset, slowly progressive autosomal recessive spinocerebellar ataxia maps to chromosome 11p15. (Letter) J. Med. Genet. 41: 858-866, 2004. (15520412) |
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| Autosomal recessive spinocerebellar ataxia, 8 - (AR) | 13.68 | | Gros-Louis, F.; Dupre, N.; Dion, P.; Fox, M. A.; Laurent, S.; Verreault, S.; Sanes, J. R.; Bouchard, J.-P.; Rouleau, G. A. : Mutations in SYNE1 lead to a newly discovered form of autosomal recessive cerebellar ataxia. Nature Genet. 39: 80-85, 2007. (17159980) |
| | Spectrin repeat containing, nuclear envelope 1 (nesprin 1)
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| Autosomal recessive spinocerebellar ataxia, 9 (with ubiquinone deficiency) - (AR) | 13.69 | | Lagier-Tourenne C, Tazir M, L²≥pez LC, Quinzii CM, Assoum M, Drouot N, Busso C, Makri S, Ali-Pacha L, Benhassine T, Anheim M, Lynch DR, Thibault C, Plewniak F, Bianchetti L, Tranchant C, Poch O, DiMauro S, Mandel JL, Barros MH, Hirano M, Koenig M. ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency. Am J Hum Genet. 2008 Mar;82(3):661-72. (18319072) | | Mollet J, Delahodde A, Serre V, Chretien D, Schlemmer D, Lombes A, Boddaert N, Desguerre I, de Lonlay P, de Baulny HO, Munnich A, R²∂tig A. CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures. Am J Hum Genet. 2008 Mar;82(3):623-30. (18319074) |
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| Spinocerebellar ataxia, autosomal recessive 10 - (AR) | 13.70 | | Vermeer, S., Hoischen, A., Meijer, R. P. P., Gilissen, C., Neveling, K., Wieskamp, N., de Brouwer, A., Koenig, M., Anheim, M., Assoum, M., Drouot, N., Todorovic, S., and 18 others. Targeted next-generation sequencing of a 12.5 Mb homozygous region reveals ANO10 mutations in patients with autosomal-recessive cerebellar ataxia. Am. J. Hum. Genet. 87: 813-819, 2010. (21092923) |
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| Spinocerebellar ataxia, autosomal recessive 11 - (AR) | 13.71 | | Doi, H., Yoshida, K., Yasuda, T., Fukuda, M., Fukuda, Y., Morita, H., Ikeda, S., Kato, R., Tsurusaki, Y., Miyake, N., Saitsu, H., Sakai, H., Miyatake, S., Shiina, M., Nukina, N., Koyano, S., Tsuji, S., Kuroiwa, Y., Matsumoto, N. Exome sequencing reveals a homozygous SYT14 mutation in adult-onset, autosomal-recessive spinocerebellar ataxia with psychomotor retardation. Am. J. Hum. Genet. 89: 320-327, 2011. (21835308) |
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| Spinocerebellar ataxia, autosomal recessive 12 - (AR) | 13.72 | | Mallaret, M., Synofzik, M., Lee, J., Sagum, C. A., Mahajnah, M., Sharkia, R., Drouot, N., Renaud, M., Klein, F. A. C., Anheim, M., Tranchant, C., Mignot, C., Mandel, J.-L., Bedford, M., Bauer, P., Salih, M. A., Schule, R., Schols, L., Aldaz, C. M., Koenig, M. The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation. Brain 137: 411-419, 2014. (24369382) |
| | WW Domain-Containing Oxidoreductase
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| Spinocerebellar ataxia, autosomal recessive 13 - (AR) | 13.73 | | Guergueltcheva, V., Azmanov, D. N., Angelicheva, D., Smith, K. R., Chamova, T., Florez, L., Bynevelt, M., Nguyen, T., Cherninkova, S., Bojinova, V., Kaprelyan, A., Angelova, L., Morar, B., Chandler, D., Kaneva, R., Bahlo, M., Tournev, I., Kalaydjieva, L. Autosomal-recessive congenital cerebellar ataxia is caused by mutations in metabotropic glutamate receptor 1. Am. J. Hum. Genet. 91: 553-564, 2012. (22901947) |
| | Glutamate receptor metabotropic, 1
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| Spinocerebellar ataxia, autosomal recessive 14 - (AR) | 13.74 | | Lise, S., Clarkson, Y., Perkins, E., Kwasniewska, A., Sadighi Akha, E., Schnekenberg, R. P., Suminaite, D., Hope, J., Baker, I., Gregory, L., Green, A., Allan, C., and 20 others. Recessive mutations in SPTBN2 implicate beta-III spectrin in both cognitive and motor development. PLoS Genet. 8: e1003074, 2012. Note: Electronic Article (23236289) |
| | Spectrin, Beta, Nonerythrocytic, 2
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| Spinocerebellar ataxia, autosomal recessive 15 - (AR) | 13.75 | | Assoum, M., Salih, M. A., Drouot, N., H'Mida-Ben Brahim, D., Lagier-Tourenne, C., AlDrees, A., Elmalik, S. A., Ahmed, T. S., Seidahmed, M. Z., Kabiraj, M. M., Koenig, M. Rundataxin, a novel protein with RUN and diacylglycerol binding domains, is mutant in a new recessive ataxia. Brain 133: 2439-2447, 2010. (20826435) |
| | RUN domain and cysteine-rich domain containing, Beclin 1-interacting protein
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| Spinocerebellar ataxia, autosomal recessive 16 - (AR) | 13.76 | | Shi, C.-H., Schisler, J. C., Rubel, C. E., Tan, S., Song, B., McDonough, H., Xu, L., Portbury, A. L., Mao, C.-Y., True, C., Wang, R.-H., Wang, Q.-Z., Sun, S.-L., Seminara, S. B., Patterson, C., Xu, Y.-M. Ataxia and hypogonadism caused by the loss of ubiquitin ligase activity of the U box protein CHIP. Hum. Molec. Genet. 23: 1013-1024, 2014. (24113144) | | Depondt, C., Donatello, S., Simonis, N., Rai, M., van Heurck, R., Abramowicz, M., D'Hooghe, M., Pandolfo, M. Autosomal recessive cerebellar ataxia of adult onset due to STUB1 mutations. Neurology 82: 1749-1750, 2014. (24719489) |
| | STIP1 homology and U-box containing protein 1
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| Spinocerebellar ataxia, autosomal recessive 17 - (AR) | 13.77 | | Burns, R., Majczenko, K., Xu, J., Peng, W., Yapici, Z., Dowling, J. J., Li, J. Z., Burmeister, M. Homozygous splice mutation in CWF19L1 in a Turkish family with recessive ataxia syndrome. Neurology 83: 2175-2182, 2014. (25361784) |
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| Spinocerebellar ataxia, autosomal recessive 18 - (AR) | 13.78 | | Hills, L. B., Masri, A., Konno, K., Kakegawa, W., Lam, A.-T. N., Lim-Melia, E., Chandy, N., Hill, R. S., Partlow, J. N., Al-Saffar, M., Nasir, R., Stoler, J. M., Barkovich, A. J., Watanabe, M., Yuzaki, M., Mochida, G. H. Deletions in GRID2 lead to a recessive syndrome of cerebellar ataxia and tonic upgaze in humans. Neurology 81: 1378-1386, 2013. (23611888) | | Utine, G. E., Haliloglu, G., Salanci, B., Cetinkaya, A., Kiper, P. O., Alanay, Y., Aktas, D., Boduroglu, K., Alikasifoglu, M. A homozygous deletion in GRID2 causes a human phenotype with cerebellar ataxia and atrophy. J. Child Neurol. 28: 926-932, 2013. (24078737) |
| | Glutamate receptor, ionotropic, delta 2
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| Spinocerebellar ataxia, autosomal recessive 19 (Lichtenstein-Knorr syndrome) - (AR) | 13.79 | | Guissart, C., Li, X., Leheup, B., Drouot, N., Montaut-Verient, B., Raffo, E., Jonveaux, P., Roux, A.-F., Claustres, M., Fliegel, L., Koenig, M. Mutation of SLC9A1, encoding the major Na+/H+ exchanger, causes ataxia-deafness Lichtenstein-Knorr syndrome. Hum. Molec. Genet. 24: 463-470, 2015. (25205112) |
| | Solute carrier family 9, member 1
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| Spinocerebellar ataxia, autosomal recessive 20 - (AR) | 13.80 | | Thomas, A. C., Williams, H., Seto-Salvia, N., Bacchelli, C., Jenkins, D., O'Sullivan, M., Mengrelis, K., Ishida, M., Ocaka, L., Chanudet, E., James, C., Lescai, F., and 22 others. Mutations in SNX14 cause a distinctive autosomal-recessive cerebellar ataxia and intellectual disability syndrome. Am. J. Hum. Genet. 95: 611-621, 2014. Note: Erratum: Am. J. Hum. Genet. 96: 1008-1009, 2015. (25439728) |
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| Spinocerebellar ataxia, autosomal recessive 21 - (AR) | 13.81 | | Schmidt, W. M., Rutledge, S. L., Schule, R., Mayerhofer, B., Zuchner, S., Boltshauser, E., Bittner, R. E. Disruptive SCYL1 mutations underlie a syndrome characterized by recurrent episodes of liver failure, peripheral neuropathy, cerebellar atrophy, and ataxia. Am. J. Hum. Genet. 97: 855-861, 2015. (26581903) |
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| Spinocerebellar ataxia, autosomal recessive 22 - (AR) | 13.82 | | Kawarai, T., Tajima, A., Kuroda, Y., Saji, N., Orlacchio, A., Terasawa, H., Shimizu, H., Kita, Y., Izumi, Y., Mitsui, T., Imoto, I., Kaji, R. A homozygous mutation of VWA3B causes cerebellar ataxia with intellectual disability. J. Neurol. Neurosurg. Psychiat. 87: 656-662, 2016. (26157035) |
| | Von Willebrand factor A domain Containing Protein 3B
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| Spinocerebellar ataxia, autosomal recessive 23 - (AR) | 13.83 | | Gomez-Herreros, F., Schuurs-Hoeijmakers, J. H. M., McCormack, M., Greally, M. T., Rulten, S., Romero-Granados, R., Counihan, T. J., Chaila, E., Conroy, J., Ennis, S., Delanty, N., Cortes-Ledesma, F., de Brouwer, A. P. M., Cavalleri, G. L., El-Khamisy, S. F., de Vries, B. B. A., Caldecott, K. W. TDP2 protects transcription from abortive topoisomerase activity and is required for normal neural function. Nature Genet. 46: 516-521, 2014. (24658003) |
| | Tyrosyl-DNA phosphodiesterase 2
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| Spinocerebellar ataxia, autosomal recessive 24 - (AR) | 13.84 | | Duan, R., Shi, Y., Yu, L., Zhang, G., Li, J., Lin, Y., Guo, J., Wang, J., Shen, L., Jiang, H., Wang, G., Tang, B. UBA5 mutations cause a new form of autosomal recessive cerebellar ataxia. PLoS One 11: e0149039, 2016. (26872069) |
| | Ubiquitin-Like Modifier Activating Enzyme 5
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| Spinocerebellar ataxia, autosomal recessive 25 - (AR) | 13.85 | | Kim, M., Sandford, E., Gatica, D., Qiu, Y., Liu, X., Zheng, Y., Schulman, B. A., Xu, J., Semple, I., Ro, S.-H., Kim, B., Mavioglu, R. N., and 10 others. Mutation in ATG5 reduces autophagy and leads to ataxia with developmental delay. eLife 5: e12245, 2016. Note: Electronic Article. (26812546) |
| | Autophagy 5, S. Cerevisiae, Homolog of
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| Spinocerebellar ataxia, autosomal recessive 26 - (AR) | 13.86 | | Hoch, N. C., Hanzlikova, H., Rulten, S. L., Tetreault, M., Komulainen, E., Ju, L., Hornyak, P., Zeng, Z., Gittens, W., Rey, S. A., Staras, K., Mancini, G. M. S., McKinnon, P. J., Wang, Z.-Q., Wagner, J. D., Care4Rare Canada Consortium, Yoon, G., Caldecott, K. W. XRCC1 mutation is associated with PARP1 hyperactivation and cerebellar ataxia. Nature 541: 87-91, 2017. (28002403) |
| | W-Ray Repair, Complementing Defective, In Chinese Hamster, 1
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| Spinocerebellar ataxia, autosomal recessive 27 - (AR) | 13.87 | | Eidhof, I., Baets, J., Kamsteeg, E.-J., Deconinck, T., van Ninhuijs, L., Martin, J.-J., Schule, R., Zuchner, S., De Jonghe, P., Schenck, A., van de Warrenburg, B. P. GDAP2 mutations implicate susceptibility to cellular stress in a new form of cerebellar ataxia. Brain 141: 2592-2604, 2018.[PubMed: 30084953] (30084953) |
| | Ganglioside induced differentiation associated protein 2
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| Spinocerebellar ataxia, autosomal recessive 28 - (AR) | 13.88 | | Edvardson, S., Elbaz-Alon, Y., Jalas, C., Matlock, A., Patel, K., Labbe, K., Shaag, A., Jackman, J. E., Elpeleg, O. A mutation in the THG1L gene in a family with cerebellar ataxia and developmental delay. Neurogenetics 17: 219-225, 2016. (27307223) |
| | tRNA-histidine guanyltransferase 1-like protein
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| Spinocerebellar ataxia, autosomal recessive 29 - (AR) | 13.89 | | Sanderson LE, Lanko K, Alsagob M, Almass R, Al-Ahmadi N, Najafi M, Al-Muhaizea MA, Alzaidan H, AlDhalaan H, Perenthaler E, van der Linde HC, Nikoncuk A, Kühn NA, Antony D, Owaidah TM, Raskin S, Vieira LGDR, Mombach R, Ahangari N, Silveira TRD, Ameziane N, Rolfs A, Alharbi A, Sabbagh RM, AlAhmadi K, Alawam B, Ghebeh H, AlHargan A, Albader AA, Binhumaid FS, Goljan E, Monies D, Mustafa OM, Aldosary M, AlBakheet A, Alyounes B, Almutairi F, Al-Odaib A, Aksoy DB, Basak AN, Palvadeau R, Trabzuni D, Rosenfeld JA, Karimiani EG, Meyer BF, Karakas B, Al-Mohanna F, Arold ST, Colak D, Maroofian R, Houlden H, Bertoli-Avella AM, Schmidts M, Barakat TS, van Ham TJ, Kaya N. Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane trafficking. Brain. 2021 Apr 12;144(3):769-780. doi: 10.1093/brain/awaa459. PMID: 33764426; PMCID: PMC8041041. (33764426) |
| | VPS41 Subunit of Hops Complex
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| Spinocerebellar ataxia, autosomal recessive 30 - (AR) | 13.90 | | Brunetti, D., Torsvik, J., Dallabona, C., Teixeira, P., Sztromwasser, P., Fernandez-Vizarra, E., Cerutti, R., Reyes, A., Preziuso, C., D'Amati, G., Baruffini, E., Goffrini, P., and 9 others. Defective PITRM1 mitochondrial peptidase is associated with A-beta amyloidotic neurodegeneration. EMBO Molec. Med. 8: 176-190, 2016. (26697887) |
| | Pitrilysin metallopeptidase 1
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| Spinocerebellar ataxia, autosomal recessive 31 - (AR) | 13.91 | | Collier JJ, Guissart C, Oláhová M, Sasorith S, Piron-Prunier F, Suomi F, Zhang D, Martinez-Lopez N, Leboucq N, Bahr A, Azzarello-Burri S, Reich S, Schöls L, Polvikoski TM, Meyer P, Larrieu L, Schaefer AM, Alsaif HS, Alyamani S, Zuchner S, Barbosa IA, Deshpande C, Pyle A, Rauch A, Synofzik M, Alkuraya FS, Rivier F, Ryten M, McFarland R, Delahodde A, McWilliams TG, Koenig M, Taylor RW. Developmental Consequences of Defective ATG7-Mediated Autophagy in Humans. N Engl J Med. 2021 Jun 24;384(25):2406-2417. doi: 10.1056/NEJMoa1915722. PMID: 34161705; PMCID: PMC7611730. (34161705) |
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| Spinocerebellar ataxia, autosomal recessive 32 - (AR) | 13.92 | | Rebelo, A. P., Eidhof, I., Cintra, V. P., Guillot-Noel, L., Pereira, C. V., Timmann, D., Traschutz, A., Schols, L., Coarelli, G., Durr, A., Anheim, M., Tranchant, C., and 9 others. Biallelic loss-of-function variations in PRDX3 cause cerebellar ataxia. Brain 144: 1467-1481, 2021.[PubMed: 33889951] (33889951) |
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| Spinocerebellar ataxia, autosomal recessive 33 - (AR) | 13.93 | | Elsaid, M. F., Chalhoub, N., Ben-Omran, T., Kumar, P., Kamel, H., Ibrahim, K., Mohamoud, Y., Al-Dous, E., Al-Azwani, I., Malek, J. A., Suhre, K., Ross, M. E., Aleem, A. A. Mutation in noncoding RNA RNU12 causes early onset cerebellar ataxia. Ann. Neurol. 81: 68-78, 2017. [PubMed: 27863452 (27863452) |
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| Spinocerebellar ataxia with axonal neuropathy - (AR) | 13.94 | | Takashima, H.; Boerkoel, C. F.; John, J.; Saifi, G. M.; Salih, M. A. M.; Armstrong, D.; Mao, Y.; Quiocho, F. A.; Roa, B. B.; Nakagawa, M.; Stockton, D. W.; Lupski, J. R. : Mutation of TDP1, encoding a topoisomerase I-dependent DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathy. Nature Genet. 32: 267-272, 2002. (12244316) |
| | Tyrosyl-DNA phosphodiesterase 1
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| Spinocerebellar ataxia with axonal neuropathy type 2 - (AR) | 13.95 | | Moreira, M.-C.; Klur, S.; Watanabe, M.; Nemeth, A. H.; Le Ber, I.; Moniz, J.-C.; Tranchant, C.; Aubourg, P.; Tazir, M.; Schols, L.; Pandolfo, P.; Schulz, J. B.; and 22 others : Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2. Nature Genet. 36: 225-227, 2004. (14770181) | | Anheim, M., Monga, B., Fleury, M., Charles, P., Barbot, C., Salih, M., Delaunoy, J. P., Fritsch, M., Arning, L., Synofzik, M., Schols, L., Sequeiros, J., and 23 others. Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients. Brain 132: 2688-2698, 2009. (19696032) |
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| Spinocerebellar ataxia with axonal neuropathy type 3 - (AR) | 13.96 | | Higuchi Y, Okunushi R, Hara T, Hashiguchi A, Yuan J, Yoshimura A, Murayama K, Ohtake A, Ando M, Hiramatsu Y, Ishihara S, Tanabe H, Okamoto Y, Matsuura E, Ueda T, Toda T, Yamashita S, Yamada K, Koide T, Yaguchi H, Mitsui J, Ishiura H, Yoshimura J, Doi K, Morishita S, Sato K, Nakagawa M, Yamaguchi M, Tsuji S, Takashima H. Mutations in COA7 cause spinocerebellar ataxia with axonal neuropathy. Brain. 2018 Jun 1;141(6):1622-1636. doi: 10.1093/brain/awy104. (29718187) |
| | Cytochrome C oxidase assembly factor 7
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| Marinesco-Sjogren syndrome (cerebellar ataxia with cataract and myopathy) - (AR) | 13.97 | | Lagier-Tourenne C, Tranebaerg L, Chaigne D, Gribaa M, Dollfus H, Silvestri G, Betard C, Warter JM, Koenig M. Eur J Hum Genet. 2003 Oct;11(10):770-8. (14512967) | | Senderek J, Krieger M, Stendel C, Bergmann C, Moser M, Breitbach-Faller N, Rudnik-Schoneborn S, Blaschek A, Wolf NI, Harting I, North K, Smith J, Muntoni F, Brockington M, Quijano-Roy S, Renault F, Herrmann R, Hendershot LM, Schroder JM, Lochmuller H, Topaloglu H, Voit T, Weis J, Ebinger F, Zerres K. Mutations in SIL1 cause Marinesco-Sjogren syndrome, a cerebellar ataxia with cataract and myopathy. Nat Genet. 2005 Dec;37(12):1312-4. Epub 2005 Nov 13. (16282977) | | Anttonen AK, Mahjneh I, Hamalainen RH, Lagier-Tourenne C, Kopra O, Waris L, Anttonen M, Joensuu T, Kalimo H, Paetau A, Tranebjaerg L, Chaigne D, Koenig M, Eeg-Olofsson O, Udd B, Somer M, Somer H, Lehesjoki AE. The gene disrupted in Marinesco-Sjogren syndrome encodes SIL1, an HSPA5 cochaperone. Nat Genet. 2005 Dec;37(12):1309-11. Epub 2005 Nov 13. (16282978) |
| | SIL1 homolog, endoplasmic reticulum chaperone
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| Sensory ataxic neuropathy, dysarthria and ophtalmoparesis - (AR) | 13.98 | | Mancuso, M.; Filosto, M.; Bellan, M.; Liguori, R.; Montagna, P.; Baruzzi, A.; DiMauro, S.; Carelli, V. : POLG mutations causing ophthalmoplegia, sensorimotor polyneuropathy, ataxia, and deafness. Neurology 62: 316-318, 2004. (16080118) | | Hakonen AH, Heiskanen S, Juvonen V, Lappalainen I, Luoma PT, Rantamaki M, Goethem GV, Lofgren A, Hackman P, Paetau A, Kaakkola S, Majamaa K, Varilo T, Udd B, Kaariainen H, Bindoff LA, Suomalainen A. Mitochondrial DNA polymerase W748S mutation: a common cause of autosomal recessive ataxia with ancient European origin. Am J Hum Genet. 2005 Sep;77(3):430-41. Epub 2005 (14745080) |
| | Polymerase (DNA directed), gamma
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| Ataxia telangiectasia - (AR) | 13.99 | | Gatti, R. A.; Berkel, I.; Boder, E.; Braedt, G.; Charmley, P.; Concannon, P.; Ersoy, R.; Foroud, T.; Jaspers, N. G. J.; Lange, K.; Lathrop, G. M.; Leppert, M.; Nakamura, Y.; O'Connell, P.; Paterson, M.; Salser, W.; Sanal, O.; Silver, J.; Sparkes, R. S.; Susi, E.; Weeks, D. E.; Wei, S.; White, R.; Yoder, F. : Localization of an ataxia-telangiectasia gene to chromosome 11q22-23. Nature 336: 577-580, 1988 (3200306) | | Savitsky, K.; Bar-Shira, A.; Gilad, S.; Rotman, G.; Ziv, Y.; Vanagaite, L.; Tagle, D. A.; Smith, S.; Uziel, T.; Sfez, S.; Ashkenazi, M.; Pecker, I.; and 18 others : A single ataxia telangiectasia gene with a product similar to PI-3 kinase. Science 268: 1749-1753, 1995. (7792600) |
| | Ataxia telangiectasia mutated
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| Ataxia telangiectasia-like disorder 1 - (AR) | 13.100 | | Stewart, G. S.; Maser, R. S.; Stankovic, T.; Bressan, D. A.; Kaplan, M. I.; Jaspers, N. G. J.; Raams, A.; Byrd, P. J.; Petrini, J. H. J.; Taylor, A. M. R. : The DNA double-strand break repair gene hMRE11 is mutated in individuals with an ataxia-telangiectasia-like disorder. Cell 99: 577-587, 1999. (10612394) | | Fernet, M.; Gribaa, M.; Salih, M. A. M.; Seidahmed, M. Z.; Hall, J.; Koenig, M. : Identification and functional consequences of a novel MRE11 mutation affecting 10 Saudi Arabian patients with the ataxia telangiectasia-like disorder. Hum. Molec. Genet. 14: 307-318, 2005. (15574463) |
| | MRE11 meiotic recombination 11 homolog A
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| Ataxia telangiectasia-like disorder 2 - (AR) | 13.101 | | Baple, E. L., Chambers, H., Cross, H. E., Fawcett, H., Nakazawa, Y., Chioza, B. A., Harlalka, G. V., Mansour, S., Sreekantan-Nair, A., Patton, M. A., Muggenthaler, M., Rich, P., and 10 others. Hypomorphic PCNA mutation underlies a human DNA repair disorder. J. Clin. Invest. 124: 3137-3146, 2014. (24911150) |
| | Proloferating cell nuclear antigen
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| Spastic ataxia, Charlevoix-Saguenay type - (AR) | 13.102 | | Bouchard JP, Richter A, Mathieu J, Brunet D, Hudson TJ, Morgan K, Melancon SB. Autosomal recessive spastic ataxia of Charlevoix-Saguenay. Neuromuscul Disord. 1998 Oct;8(7):474-9. (10610707) | | Engert, J. C.; Dore, C.; Mercier, J.; Ge, B.; Betard, C.; Rioux, J. D.; Owen, C.; Berube, P.; Devon, K.; Birren, B.; Melancon, S. B.; Morgan, K.; Hudson, T. J.; Richter, A. : Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS): high-resolution physical and transcript map of the candidate region in chromosome region 13q11. Genomics 62: 156-164, 1999. (9829277) | | Engert JC, Berube P, Mercier J, Dore C, Lepage P, Ge B, Bouchard JP, Mathieu J, Melancon SB, Schalling M, Lander ES, Morgan K, Hudson TJ, Richter A. ARSACS, a spastic ataxia common in northeastern Quebec, is caused by mutations in a new gene encoding an 11.5-kb ORF. Nat Genet. 2000 Feb;24(2):120-5. (10655055) |
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| Peroxisome biogenesis disorder 9B (Refsum disease-1, adult) - (AR) | 13.103 | | Nadal, N.; Rolland, M.-O.; Tranchant, C.; Reutenauer, L.; Gyapay, G.; Warter, J.-M.; Mandel, J.-L.; Koenig, M. : Localization of Refsum disease with increased pipecolic acidaemia to chromosome 10p by homozygosity mapping and carrier testing in a single nuclear family. Hum. Molec. Genet. 4: 1963-1966, 1995. (8595422) | | Jansen, G. A.; Ofman, R.; Ferdinandusse, S.; Ijlst, L.; Muijsers, A. O.; Skjeldal, O. H.; Stokke, O.; Jakobs, C.; Besley, G. T. N.; Wraith, J. E.; Wanders, R. J. A. : Refsum disease is caused by mutations in the phytanoyl-CoA hydroxylase gene. Nature Genet. 17: 190-193, 1997. (9326939) | | Mihalik, S. J.; Morrell, J. C.; Kim. D.; Sacksteder, K. A.; Watkins, P. A.; Gould, S. J. : Identification of PAHX, a Refsum disease gene. Nature Genet. 17: 185-189, 1997. (9326940) |
| | Phytanoyl-CoA 2-hydroxylase
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| Refsum disease-2 (adult) - (AR) | 13.104 | | van den Brink, D. M.; Brites, P.; Haasjes, J.; Wierzbicki, A. S.; Mitchell, J.; Lambert-Hamill, M.; de Belleroche, J.; Jansen, G. A.; Waterham, H. R.; Wanders, R. J. A. : Identification of PEX7 as the second gene involved in Refsum disease. Am. J. Hum. Genet. 72: 471-477, 2003. (12522768) |
| | Peroxisomal biogenesis factor 7
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| Cerebellar ataxia and hypogonadotropic hypogonadism (Goedon Holmes syndrome) - (AR) | 13.105 | | Margolin, D. H., Kousi, M., Chan, Y.-M., Lim, E. T., Schmahmann, J. D., Hadjivassiliou, M., Hall, J. E., Adam, I., Dwyer, A., Plummer, L., Aldrin, S. V., O'Rourke, J., and 9 others. Ataxia, dementia, and hypogonadotropism caused by disordered ubiquitination. New Eng. J. Med. 368: 1992-2003, 2013. (23656588) |
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| Myopathy, mitochondrial and cerebellar ataxia - (AR) | 13.106 | | Nasca A, Scotton C, Zaharieva I, Neri M, Selvatici R, Magnusson OT, Gal A, Weaver D, Rossi R, Armaroli A, Pane M, Phadke R, Sarkozy A, Muntoni F, Hughes I, Cecconi A, Hajnóczky G, Donati A, Mercuri E, Zeviani M, Ferlini A, Ghezzi D. Recessive mutations in MSTO1 cause mitochondrial dynamics impairment, leading to myopathy and ataxia. Hum Mutat. 2017 Aug;38(8):970-977. doi: 10.1002/humu.23262. Epub 2017 Jun 6. (28544275) |
| | Misato homolog 1 (Drosophila)
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| 13.107 | | Sferra A, Fortugno P, Motta M, Aiello C, Petrini S, Ciolfi A, Cipressa F, Moroni I, Leuzzi V, Pieroni L, Marini F, Boespflug Tanguy O, Eymard-Pierre E, Danti FR, Compagnucci C, Zambruno G, Brusco A, Santorelli FM, Chiapparini L, Francalanci P, Loizzo AL, Tartaglia M, Cestra G, Bertini E. Biallelic mutations in RNF220 cause laminopathies featuring leukodystrophy, ataxia and deafness. Brain. 2021 May 8:awab185. doi: 10.1093/brain/awab185. Online ahead of print. PMID: 33964137 (33964137) |
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| Cerebellar ataxia with neuropathy, hearing loss and intellectual disability - (XL) | 13.108 | | Pandolfo M, Rai M, Remiche G, Desmyter L, Vandernoot I. Cerebellar ataxia, neuropathy, hearing loss, and intellectual disability due to AIFM1 mutation. Neurol Genet. 2020 Apr 9;6(3):e420. doi: 10.1212/NXG.0000000000000420. PMID: 32337346; PMCID: PMC7164969. (32337346) |
| | Apoptosis-inducing factor, Mitochondria-associated 1
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| Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy and Epilepsy - (AR) | 13.109 | | Nguyen TTM, Murakami Y, Mobilio S, Niceta M, Zampino G, Philippe C, Moutton S, Zaki MS, James KN, Musaev D, Mu W, Baranano K, Nance JR, Rosenfeld JA, Braverman N, Ciolfi A, Millan F, Person RE, Bruel AL, Thauvin-Robinet C, Ververi A, DeVile C, Male A, Efthymiou S, Maroofian R, Houlden H, Maqbool S, Rahman F, Baratang NV, Rousseau J, St-Denis A, Elrick MJ, Anselm I, Rodan LH, Tartaglia M, Gleeson J, Kinoshita T, Campeau PM. Bi-allelic Variants in the GPI Transamidase Subunit PIGK Cause a Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy, and Epilepsy. Am J Hum Genet. 2020 Apr 2;106(4):484-495. doi: 10.1016/j.ajhg.2020.03.001. Epub 2020 Mar 26. PMID: 32220290; PMCID: PMC7118585. (32220290) |
| | Phosphatidylinositol Glycan Anchor Biosynthesis Class K Protein
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| Coenzyme Q10 deficiency - (AR) | 13.110 | | Malicdan MCV, Vilboux T, Ben-Zeev B, Guo J, Eliyahu A, Pode-Shakked B, Dori A, Kakani S, Chandrasekharappa SC, Ferreira CR, Shelestovich N, Marek-Yagel D, Pri-Chen H, Blatt I, Niederhuber JE, He L, Toro C, Taylor RW, Deeken J, Yardeni T, Wallace DC, Gahl WA, Anikster Y. A novel inborn error of the coenzyme Q10 biosynthesis pathway: cerebellar ataxia and static encephalomyopathy due to COQ5 C-methyltransferase deficiency. Hum Mutat. 2018 Jan;39(1):69-79. doi: 10.1002/humu.23345. Epub 2017 Nov 8. PMID: 29044765; PMCID: PMC5722658. (29044765) |
| | Coenzyme Q5 Methyltransferase
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