Affiliation:
1. The Fourth Affiliated Hospital, Zhejiang University School of Medicine
2. The Second Affiliated Hospital, Zhejiang University School of Medicine
Abstract
AbstractBackgroundEssential tremor (ET) is a neurological disease characterized by action tremor in upper arms. Although its high heritability and prevalence worldwide, its etiology and association with other diseases are still unknown.MethodWe investigated 10 common spinocerebellar ataxias (SCAs), including SCA1, SCA2, SCA3, SCA6, SCA7, SCA8, SCA12, SCA17, SCA36, dentatorubral-pallidoluysian atrophy (DRPLA) in 92 early-onset familial ET pedigrees in China collected from 2016 to 2022.ResultWe found one SCA12 proband carried 51 CAG repeats withinPPP2R2Bgene and one SCA3 proband with intermediate CAG repeats (55) withATXN3gene. The other 90 ET probands all had normal repeat expansions.ConclusionTremor can be the initial phenotype of certain SCA and it is necessary to screen SCAs in ET patients, especially in early-onset and familial patients.
Publisher
Research Square Platform LLC
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