autosomal dominant cerebellar ataxias
ADCAs
See spinocerebellar ataxias (SCAs)
Types
autosomal dominant cerebellar ataxia type I (ophtalmoplegia, optic atrophy, dementia, extrapyramidal signs, amyotrophy)
- spinocerebellar ataxia 1 (SCA1)
- spinocerebellar ataxia 2 (SCA2)
- spinocerebellar ataxia 3 (SCA3)/Machado-Joseph disease (MJD)
- spinocerebellar ataxia 4 (SCA4)
- spinocerebellar ataxia 12 (SCA12)
autosomal dominant cerebellar ataxia type II (ophtalmoplegia, dementia, extrapyramidal signs)
- spinocerebellar ataxia 7 (SCA7) with progressive macular dystrophy (MIM.164500) (expanded trinucleotide repeat in the gene ATXN7 encoding ataxin-7 MIM. 607640).
autosomal dominant cerebellar ataxia type III (pure cerebellar syndrome)
- spinocerebellar ataxia 5 (SCA5)
- spinocerebellar ataxia 6 (SCA6)
- spinocerebellar ataxia 8 (SCA8)
- spinocerebellar ataxia 11 (SCA11)
ataxia and epilepsy
- spinocerebellar ataxia 10 (SCA10)
- spinocerebellar ataxia 17 (SCA17) (TBP TATA box-binding protein MIM.600075)