Genetic analysis of ten common degenerative hereditary ataxia loci in patients with essential tremor
Parkinsonism & Related Disorders(2015)
摘要
•ET shares clinical-pathological features with degenerative hereditary ataxias.•Analyzed repeat size in 10 degenerative hereditary ataxia loci in 323 ET cases and 299 controls.•Analysis included overall allele distribution, and repeat expansions in the intermediate and pathogenic range.•Our study suggests that pathogenic repeat expansions in SCA loci are not associated with essential tremor.
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关键词
Essential tremor,Spinocerebellar ataxia loci,CAG repeat expansions,Genetics
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