Genes and mutations for the autosomal dominant ataxias

(modified from Table 2. of Sequeiros J, Martins S, Silveira I: Epidemiology and population genetics of degenerative ataxias. Chapt. 14.
In: Subramony SH, Dürr A: Ataxic Disorders. Handbook of Clinical Neurology, 3rd series, vol. 103, pp.225-248. Elsevier, Edinburgh, 2011)

DiseaseLocusMutationGene name (protein product)Putative functionReferences
SCA16p23Expanded (CAG)n ATXN1 (ataxin 1)Transcription(Orr et al., 1993)
DRPLA12p13.31Expanded (CAG)nDRPLA (atrophin 1) Transcription(Koide et al. 1994; Nagafuchi et al. 1994)
SCA212q24Expanded (CAG)nATXN2 (ataxin 2) RNA metabolism(Imbert et al., 1996; Puslt et al., 1996; Sanpei et al., 1996)
MJD/SCA314q32.1Expanded (CAG)nATXN3 (MJD1)De-ubiquitylating activity(Kawaguchi et al., 1994)
SCA416q22.1---(Flanigan et al., 1996)
SCA chr 6-linked16q22.1Point mutationQ9H7K4 ( puratrophin-1)-(Ishikawa et al., 2005)
SCA511p11-q11Point mutat., delet.SPTBN2Cytoskeletal protein(Ikeda et al., 2006)
SCA619p13Expanded (CAG)nCACNA1A P/Q-type α1A Ca2+channel subunit (Zhuchenko et al., 1997)
SCA73p12-p13Expanded (CAG)nATXN7 (ataxin 7)Transcription(David et al., 1997)
SCA813q21Expanded (CTG)nKLHL1AS (transcribed/untranslated)Unknown(Koob et al., 1999)
SCA1022q13Expanded (ATTCT)nATXN10Unknown(Matsuura et al., 2000)
SCA1115q14-21.3---(Worth et al., 1999)
SCA125q31-q33Expanded (CAG)nPPP2R2B (PPP2R2B)Phosphatase regulation(Holmes et al., 1999)
SCA1319q13.3-q13.4Point mutationsKCNC3 (Kv3.3)Voltage-gated K+ channel(Waters et al., 2006)
SCA1419q13.4-qterPoint mutationsPRKCG (PKC?)Serine/threonine kinase(Chen et al., 2003)
SCA153p24.2-pter---(Knight et al., 2003)
SCA168q22.1-q24.1---(Miyoshi et al., 2001)
SCA176q27Expanded (CAG)nTBP (TBP)Transcription(Nakamura et al., 2001)
SCA187q22-q32---(Brkanac et al., 2002a)
SCA191p21-q21---(Verbeek et al., 2002)
SCA2011---(Knight et al., 2004)
SCA217p21.3-p15.1---(Vuillaume et al., 2002)
SCA221p21-q23---(Chung et al., 2003)
SCA2320p13-p12.3---(Verbeek et al., 2004b)
SCA241p36---(Swartz et al., 2002)
SCA252p15-p21---(Stevanin et al., 2005)
SCA2619p13.3---(Yu et al., 2005)
SCA2713q34Point mutationsFGF14 (FGF14)Fibroblast growth factor(Van Switen et al., 2003)
SCA2818p11.2-q11.2---(Cagnoli et al., 2006)
SCA303p26---(Dudding et al., 2004)