Abstract：
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.
METHODS: 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.
RESULTS: 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.
CONCLUSIONS: Tremor can be the initial phenotype of certain SCA. For early-onset, familial ET patients, careful physical examinations are needed before genetic SCA screening.
METHODS: 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.
RESULTS: 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.
CONCLUSIONS: Tremor can be the initial phenotype of certain SCA. For early-onset, familial ET patients, careful physical examinations are needed before genetic SCA screening.
摘要：
背景：原发性震颤（ET）是一种神经系统疾病，其特征是上臂的动作性震颤。尽管其在世界范围内的高遗传力和患病率，其病因及与其他疾病的关系尚不清楚。
方法：我们调查了10种常见的脊髓小脑共济失调(SCAs)，包括SCA1，SCA2，SCA3，SCA6，SCA7，SCA8，SCA12，SCA17，SCA36，从2016年至2022年在中国收集的92个早发性家族性ET家系的牙齿-苍白萎缩（DRPLA）。
结果：我们发现一个SCA12先证者在PPP2R2B基因内携带51个CAG重复序列，一个SCA3先证者带有ATXN3基因的中间CAG重复序列（55）。其他90个ET先证者均具有正常的重复扩展。
结论：震颤可能是某些SCA的初始表型。对于早期发作，家族性ET患者，在进行遗传SCA筛查之前,需要进行仔细的体格检查.
方法：我们调查了10种常见的脊髓小脑共济失调(SCAs)，包括SCA1，SCA2，SCA3，SCA6，SCA7，SCA8，SCA12，SCA17，SCA36，从2016年至2022年在中国收集的92个早发性家族性ET家系的牙齿-苍白萎缩（DRPLA）。
结果：我们发现一个SCA12先证者在PPP2R2B基因内携带51个CAG重复序列，一个SCA3先证者带有ATXN3基因的中间CAG重复序列（55）。其他90个ET先证者均具有正常的重复扩展。
结论：震颤可能是某些SCA的初始表型。对于早期发作，家族性ET患者，在进行遗传SCA筛查之前,需要进行仔细的体格检查.
