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Case Reports
. 2020 Dec 11;12(3):466-471.
doi: 10.1159/000511954. eCollection 2020 Sep-Dec.

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

Giulia Grigioni  1 , Christian Saleh  2 , Phillip Jaszczuk  1 , Dorothea Wand  3 , Stefanie Wilmes  1 , Margret Hund-Georgiadis  1
Affiliations
Case Reports

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

Giulia Grigioni et al. Case Rep Neurol. .

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.

Keywords: Ataxia; Cerebellar atrophy; Fragile-X-associated tremor; Tremor.

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Conflict of interest statement

The authors declare that they have no conflict of interest.

Figures

Fig. 1
Fig. 1
Cranial FLAIR-MRI: axial view showing periventricular lesions (yellow arrows).
Fig. 2
Fig. 2
Cranial FLAIR-MRI: coronal view with cerebellar atrophy (red arrows).
Fig. 3
Fig. 3
Cranial FLAIR-MRI: coronal view evidencing frontotemporal atrophy (white arrows).
See this image and copyright information in PMC

References

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