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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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
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author Grigioni, Giulia
Saleh, Christian
Jaszczuk, Phillip
Wand, Dorothea
Wilmes, Stefanie
Hund-Georgiadis, Margret
author_facet Grigioni, Giulia
Saleh, Christian
Jaszczuk, Phillip
Wand, Dorothea
Wilmes, Stefanie
Hund-Georgiadis, Margret
author_sort Grigioni, Giulia
collection PubMed
description 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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spelling pubmed-77728612021-01-12 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 Case Rep Neurol Case Series − General Neurology 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. S. Karger AG 2020-12-11 /pmc/articles/PMC7772861/ /pubmed/33442376 http://dx.doi.org/10.1159/000511954 Text en Copyright © 2020 by S. Karger AG, Basel http://creativecommons.org/licenses/by-nc/4.0/ This article is licensed under the Creative Commons Attribution-NonCommercial-4.0 International License (CC BY-NC) (http://www.karger.com/Services/OpenAccessLicense). Usage and distribution for commercial purposes requires written permission.
spellingShingle Case Series − General Neurology
Grigioni, Giulia
Saleh, Christian
Jaszczuk, Phillip
Wand, Dorothea
Wilmes, Stefanie
Hund-Georgiadis, Margret
Fragile-X-Associated Tremor/Ataxia Syndrome or Alcohol-Induced Cerebellar Degeneration? A Case Report
title Fragile-X-Associated Tremor/Ataxia Syndrome or Alcohol-Induced Cerebellar Degeneration? A Case Report
title_full Fragile-X-Associated Tremor/Ataxia Syndrome or Alcohol-Induced Cerebellar Degeneration? A Case Report
title_fullStr Fragile-X-Associated Tremor/Ataxia Syndrome or Alcohol-Induced Cerebellar Degeneration? A Case Report
title_full_unstemmed Fragile-X-Associated Tremor/Ataxia Syndrome or Alcohol-Induced Cerebellar Degeneration? A Case Report
title_short Fragile-X-Associated Tremor/Ataxia Syndrome or Alcohol-Induced Cerebellar Degeneration? A Case Report
title_sort fragile-x-associated tremor/ataxia syndrome or alcohol-induced cerebellar degeneration? a case report
topic Case Series − General Neurology
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7772861/
https://www.ncbi.nlm.nih.gov/pubmed/33442376
http://dx.doi.org/10.1159/000511954
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