Dystonic Tremor as Main Clinical Manifestation of SCA21.

IF 2.6 4区医学 Q2 CLINICAL NEUROLOGY

Movement Disorders Clinical Practice Pub Date : 2024-11-01 Epub Date: 2024-09-28 DOI:10.1002/mdc3.14220

Vidal Yahya, Claudio Baiata, Edoardo Monfrini, Sandrine Correia, Gloria Brescia, Alessio Di Fonzo, Elena Moro

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引用次数: 0

Abstract

Background: Spinocerebellar ataxia type 21 (SCA21) is a rare inherited neurological disorder characterized by motor, cognitive, and behavioral disturbances, caused by autosomal dominant TMEM240 variants.

Objectives: To identify the genetic cause of a dystonic tremor with autosomal dominant inheritance.

Methods: Six subjects of a multi-generational French family affected by tremor and dystonia were studied. Each patient underwent a comprehensive clinical assessment and a whole-exome sequencing analysis.

Results: All six subjects presented with early-onset prominent hand dystonic tremor and multifocal/generalized dystonia, secondarily developing mild cerebellar ataxia. The younger generation showed more pronounced cognitive and behavioral impairment. The known pathogenic TMEM240 c.509C>T (p.P170L) variant was found in heterozygosis in all subjects.

Conclusions: Dystonic tremor can represent the core clinical feature of SCA21, even in absence of overt cerebellar ataxia. Therefore, TMEM240 pathogenic variants should be considered disease-causing in subjects displaying dystonic tremor, variably associated with ataxia, parkinsonism, neurodevelopmental disorders, and cognitive impairment.

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肌张力震颤是 SCA21 的主要临床表现。

背景：脊髓小脑共济失调21型（SCA21）是一种罕见的遗传性神经系统疾病，以运动、认知和行为障碍为特征，由常染色体显性遗传的TMEM240变体引起：目的：确定常染色体显性遗传肌张力震颤的遗传原因：研究了一个多代同堂的法国震颤和肌张力障碍家族中的六名患者。每位患者都接受了全面的临床评估和全基因组测序分析：结果：所有六名受试者均表现为早发性突出的手部肌张力震颤和多灶性/全身性肌张力障碍，继而发展为轻度小脑共济失调。年轻一代表现出更明显的认知和行为障碍。在所有受试者中都发现了已知的致病性 TMEM240 c.509C>T (p.P170L) 变异：结论：即使没有明显的小脑共济失调，肌张力震颤也可代表 SCA21 的核心临床特征。因此，TMEM240致病变体应被认为是出现肌张力震颤的受试者的致病基因，肌张力震颤可能与共济失调、帕金森病、神经发育障碍和认知障碍有关。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Movement Disorders Clinical Practice CLINICAL NEUROLOGY-

CiteScore

4.00

自引率

7.50%

发文量

218

期刊介绍： Movement Disorders Clinical Practice- is an online-only journal committed to publishing high quality peer reviewed articles related to clinical aspects of movement disorders which broadly include phenomenology (interesting case/case series/rarities), investigative (for e.g- genetics, imaging), translational (phenotype-genotype or other) and treatment aspects (clinical guidelines, diagnostic and treatment algorithms)