Evidence against haploinsuffiency of human ataxin 10 as a cause of spinocerebellar ataxia type 10

Abstract

Spinocerebellar ataxia type 10 (SCA10) is an autosomal dominant neurodegenerative disorder characterized by ataxia and cerebellar atrophy and seizures in some patients. A heterozygous unstable tandem expansion of a pentanucleotide ATTCT is responsible for the disease. This mutation lies within intron 9 of the ataxin 10 gene (ATXN10), localized on 22q13.31… (More)
DOI: 10.1007/s10048-009-0227-8

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