Early-onset familial essential tremor is associated with nucleotide expansions of spinocerebellar ataxia in China

期刊论文
发表日期：

2024年1月16日

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Zhilin Zheng,
Zeyu Zhu,
Jiali Pu,
Chen Zhou,
Lanxiao Cao,
Dayao Lv,
Jinyu Lu,
Gaohua Zhao,
Yanxing Chen,
Jun Tian,
Xinzhen Yin,
Baorong Zhang,
Yaping Yan,
Guohua Zhao

摘要

Background

Essential 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.

Method

We 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.

Result

We found one SCA12 proband carried 51 CAG repeats within PPP2R2B gene and one SCA3 proband with intermediate CAG repeats (55) with ATXN3 gene. The other 90 ET probands all had normal repeat expansions.

Conclusion

Tremor can be the initial phenotype of certain SCA. For early-onset, familial ET patients, careful physical examinations are needed before genetic SCA screening.