Grigioni Giulia, Saleh Christian, Jaszczuk Phillip, Wand Dorothea, Wilmes Stefanie, Hund-Georgiadis Margret
REHAB Basel, Clinic for Neurorehabilitation and Paraplegiology, Basel, Switzerland.
Department of Neurophysiology and Neurology, University Hospital Basel, Basel, Switzerland.
Case Rep Neurol. 2020 Dec 11;12(3):466-471. doi: 10.1159/000511954. eCollection 2020 Sep-Dec.
Fragile-X-associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder that manifests with intention tremor, progressive gait ataxia, and cognitive impairment. The disease is genetically characterized by a premutation of the gene on the X-chromosome manifesting with a CGG triplet expansion between 55 and 200. Given the phenotypical variety of this disease, diagnosis is frequently delayed. We present and discuss a male patient whose diagnosis of FXTAS was delayed due to his concomitant alcohol abuse.
脆性X染色体相关震颤/共济失调综合征（FXTAS）是一种神经退行性疾病，表现为意向性震颤、进行性步态共济失调和认知障碍。该疾病的遗传学特征是X染色体上的一个基因发生前突变，表现为CGG三联体重复序列在55至200之间扩增。鉴于这种疾病的表型多样性，诊断常常延迟。我们介绍并讨论了一名男性患者，其FXTAS的诊断因同时存在酒精滥用而延迟。
