Fragile-X-Associated Tremor/Ataxia Syndrome or Alcohol-Induced Cerebellar Degeneration? A Case Report

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 FMR1gene on the X-chromosome manifesting with a CGG triplet ex...

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Detalles Bibliográficos
Autores principales: Grigioni, Giulia, Saleh, Christian, Jaszczuk, Phillip, Wand, Dorothea, Wilmes, Stefanie, Hund-Georgiadis, Margret
Formato: Online Artículo Texto
Lenguaje:English
Publicado: S. Karger AG 2020
Materias:
Case Series − General Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7772861/
https://www.ncbi.nlm.nih.gov/pubmed/33442376
http://dx.doi.org/10.1159/000511954
Descripción
Sumario: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 FMR1gene 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.

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