TABLES
Origin of ancestral mutations
(modified from Table 4. 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 | Origin of families | Founder effects | Ancestral haplotypes | References |
|---|---|---|---|---|
| SCA1 | Multiple | Siberia, South Africa (2), India | ND | (Goldfarb et al.,1996; Ramesar et al., 1997; Mittal et al., 2005a) |
| DRPLA | Multiple | Japan | Asian | (Yanagisawa et al., 1996; Martins et al., 2003) |
| SCA2 | Multiple | India, Cuba | ND | (Choudhry et al., 2001; Alottey et al., 1995) |
| MJD/SCA3 | Multiple | Floresa,S.Miguelb, mainland Portugala,b, Japana | aAsian, bPortuguese? | (Gaspar et al., 2001; Martins et al., 2007) |
| SCA5 | American, French, German | ND | ND | (Ikeda et al., 2006) |
| SCA6 | Multiple | Germany, Japan, Netherlands, England | ND | (Dichgans et al., 1999; Yabe et al., 2001; Verbeek et al., 2004a, Craig et al., 2004) |
| SCA7 | Multiple | Finland, Sweden | ND | (Jonasson et al., 2000) |
| SCA8 | Multiple | ND | ND | (Ikeda et al., 2004; Martins et al., 2005) |
| SCA10 | Mexican and Brazilian | ND | ND | (Matsuura et al., 2000; Alonso et al., 2006) |
| SCA12 | German and Indian | ND | ND | (Bahl et al., 2005) |
| SCA13 | Filipino, French | ND | ND | (Waters et al., 2006) |
| SCA14 | Multiple | ND | ND | (Verbeek et al., 2005) |
| SCA17 | Multiple | ND | ND | (Nakamura et al., 2001; Zühlke et al., 2005) |
| SCA27 | Dutch, German | ND | ND | (Swieten et al., 2003; Dalski et al., 2005) |
ND - not described/not determined
Last Update:
June 6, 2016