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

Grigioni, Giulia; Saleh, Christian; Jaszczuk, Phillip; Wand, Dorothea; Wilmes, Stefanie; Hund-Georgiadis, Margret

Grigioni, Giulia; Saleh, Christian; Jaszczuk, Phillip; Wand, Dorothea; Wilmes, Stefanie; Hund-Georgiadis, Margret.

Afiliación

Grigioni G; REHAB Basel, Clinic for Neurorehabilitation and Paraplegiology, Basel, Switzerland.
Saleh C; Department of Neurophysiology and Neurology, University Hospital Basel, Basel, Switzerland.
Jaszczuk P; REHAB Basel, Clinic for Neurorehabilitation and Paraplegiology, Basel, Switzerland.
Wand D; Department of Medical Genetic and Pathology, University Hospital of Basel, Basel, Switzerland.
Wilmes S; REHAB Basel, Clinic for Neurorehabilitation and Paraplegiology, Basel, Switzerland.
Hund-Georgiadis M; REHAB Basel, Clinic for Neurorehabilitation and Paraplegiology, Basel, Switzerland.

Case Rep Neurol ; 12(3): 466-471, 2020.

Article en En | MEDLINE | ID: mdl-33442376

ABSTRACT

ABSTRACT

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.

Palabras clave

Ataxia; Cerebellar atrophy; Fragile-X-associated tremor; Tremor

Texto completo

Imprimir

XML

PubMed Links

Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Tipo de estudio: Risk_factors_studies Idioma: En Revista: Case Rep Neurol Año: 2020 Tipo del documento: Article País de afiliación: Suiza

Texto completo

Imprimir

XML

PubMed Links

Buscar en Google