Fragile X Tremor/Ataxia Syndrome

Alternative Names

  • FXTAS
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WHO-ICD-10 version:2010

Diseases of the nervous system

Systemic atrophies primarily affecting the central nervous system

OMIM Number

300623

Mode of Inheritance

X-linked dominant

Gene Map Locus

Xq27.3

Description

Fragile X-associated tremor/ataxia syndrome (FXTAS) is a rare neurodegenerative disorder characterized by adult-onset progressive intention tremor and gait ataxia. [From Orphanet]

Epidemiology in the Arab World

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Other Reports

United Arab Emirates

Sarathchandran et al. (2019) described a 75-year old Emirati male who presented with gait ataxia, urinary incontinence and progressive dementia. MRI results were typical of FXTAS. Genetic screening revealed premutation of the FMR1 gene in the patient as well as his autistic grandson. 

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