Abstract
Objective: We evaluated patients with fragile X-associated tremor/ataxia syndrome (FXTAS), a neurodegenerative disorder associated with a CGG repeat expansion in the premutation range in the fragile X mental retardation 1 (FMR1) gene. Methods: Neurological, psychiatric and neuropsychological evaluations were performed on 15 male patients with FXTAS. Results: Seven cases were diagnosed with dementia, and seven others were diagnosed with mood and/or anxiety disorders. Twelve subjects demonstrated deficits on neuropsychological testing. Conclusions: Physicians assessing dementia patients are urged to consider this newly described syndrome, especially in patients with dementia associated with a movement disorder and in those with a family history of mental retardation. If FXTAS is a possible diagnosis, physicians may carry out FMR1 DNA testing; patients who test positive on DNA testing should undergo magnetic resonance imaging, be referred to neurology and receive genetic counseling.
Original language | English (US) |
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Pages (from-to) | 349-356 |
Number of pages | 8 |
Journal | General Hospital Psychiatry |
Volume | 29 |
Issue number | 4 |
DOIs | |
State | Published - Jul 2007 |
Keywords
- Anxiety disorder
- Dementia
- Fragile X premutation
- FXTAS
- Mood disorder
ASJC Scopus subject areas
- Emergency Medicine
- Medicine(all)
- Psychiatry and Mental health