[Autosomal dominant spinocerebellar ataxia].
The modern classification is presented based on genetic criteria of the group of degenerative nervous system diseases inherited as autosomal dominant trait and called collectively spinocerebellar ataxia (SCA). They belong mostly to the class of diseases of similar mutation mechanism in which amplification is present of the trinucleotide sequence (CAG)n. Clinical picture and neuropathological changes in various SCA types are compared.
Milewska
D
D
Zakładu Organizacji Ochrony Zdrowia, Instytutu Psychiatrii i Neurologii w Warszawie.
Hoffman-Zacharska
D
D
Zaremba
J
J
D004252:DNA Mutational Analysis / Q000379:methods; D006801:Humans; D017354:Point Mutation / Q000235:genetics; D020754:Spinocerebellar Ataxias / Q000145:classification / Q000175:diagnosis / Q000235:genetics*; D018911:Trinucleotide Repeats / Q000235:genetics