TABLES
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)
| Disease | Locus | Mutation | Gene name (protein product) | Putative function | References |
|---|---|---|---|---|---|
| SCA1 | 6p23 | Expanded (CAG)n | ATXN1 (ataxin 1) | Transcription | (Orr et al., 1993) |
| DRPLA | 12p13.31 | Expanded (CAG)n | DRPLA (atrophin 1) | Transcription | (Koide et al. 1994; Nagafuchi et al. 1994) |
| SCA2 | 12q24 | Expanded (CAG)n | ATXN2 (ataxin 2) | RNA metabolism | (Imbert et al., 1996; Puslt et al., 1996; Sanpei et al., 1996) |
| MJD/SCA3 | 14q32.1 | Expanded (CAG)n | ATXN3 (MJD1) | De-ubiquitylating activity | (Kawaguchi et al., 1994) |
| SCA4 | 16q22.1 | - | - | - | (Flanigan et al., 1996) |
| SCA chr 6-linked | 16q22.1 | Point mutation | Q9H7K4 ( puratrophin-1) | - | (Ishikawa et al., 2005) |
| SCA5 | 11p11-q11 | Point mutat., delet. | SPTBN2 | Cytoskeletal protein | (Ikeda et al., 2006) |
| SCA6 | 19p13 | Expanded (CAG)n | CACNA1A | P/Q-type α1A Ca2+channel subunit | (Zhuchenko et al., 1997) |
| SCA7 | 3p12-p13 | Expanded (CAG)n | ATXN7 (ataxin 7) | Transcription | (David et al., 1997) |
| SCA8 | 13q21 | Expanded (CTG)n | KLHL1AS (transcribed/untranslated) | Unknown | (Koob et al., 1999) |
| SCA10 | 22q13 | Expanded (ATTCT)n | ATXN10 | Unknown | (Matsuura et al., 2000) |
| SCA11 | 15q14-21.3 | - | - | - | (Worth et al., 1999) |
| SCA12 | 5q31-q33 | Expanded (CAG)n | PPP2R2B (PPP2R2B) | Phosphatase regulation | (Holmes et al., 1999) |
| SCA13 | 19q13.3-q13.4 | Point mutations | KCNC3 (Kv3.3) | Voltage-gated K+ channel | (Waters et al., 2006) |
| SCA14 | 19q13.4-qter | Point mutations | PRKCG (PKC?) | Serine/threonine kinase | (Chen et al., 2003) |
| SCA15 | 3p24.2-pter | - | - | - | (Knight et al., 2003) |
| SCA16 | 8q22.1-q24.1 | - | - | - | (Miyoshi et al., 2001) |
| SCA17 | 6q27 | Expanded (CAG)n | TBP (TBP) | Transcription | (Nakamura et al., 2001) |
| SCA18 | 7q22-q32 | - | - | - | (Brkanac et al., 2002a) |
| SCA19 | 1p21-q21 | - | - | - | (Verbeek et al., 2002) |
| SCA20 | 11 | - | - | - | (Knight et al., 2004) |
| SCA21 | 7p21.3-p15.1 | - | - | - | (Vuillaume et al., 2002) |
| SCA22 | 1p21-q23 | - | - | - | (Chung et al., 2003) |
| SCA23 | 20p13-p12.3 | - | - | - | (Verbeek et al., 2004b) |
| SCA24 | 1p36 | - | - | - | (Swartz et al., 2002) |
| SCA25 | 2p15-p21 | - | - | - | (Stevanin et al., 2005) |
| SCA26 | 19p13.3 | - | - | - | (Yu et al., 2005) |
| SCA27 | 13q34 | Point mutations | FGF14 (FGF14) | Fibroblast growth factor | (Van Switen et al., 2003) |
| SCA28 | 18p11.2-q11.2 | - | - | - | (Cagnoli et al., 2006) |
| SCA30 | 3p26 | - | - | - | (Dudding et al., 2004) |
Last Update:
June 6, 2016