Article
DNA analysis in hereditary dentatorubral-pallidoluysian atrophy: correlation between CAG repeat length and phenotypic variation and the molecular basis of anticipation.
Neurology - 1 Jan 1995
Komure O, Sano A, Nishino N, Yamauchi N, Ueno S, Kondoh K, Sano N, Takahashi M, Murayama N, Kondo I
Abstract excerpt
Hereditary dentatorubral-pallidoluysian atrophy (DRPLA) is an autosomal dominant neurodegenerative disease with variable clinical phenotypes. Progressive ataxia, choreoathetosis, and dementia are the main clinical features of adult-onset cases, whereas the main feature in juvenile-onset DRPLA is...
Topics
- Adolescent
- Adult
- Age of Onset
- Base Sequence
- Brain
- Cell Line
- Child
- DNA
- DNA Primers
- Female
- Genetic Variation
- Humans
- Male
- Middle Aged
- Molecular Sequence Data