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J Geriatr Psychiatry Neurol. 2016 Sep 19. pii: 0891988716666379. [Epub ahead of print]

Risk Factors for Cognitive Impairment in Fragile X-Associated Tremor/Ataxia Syndrome.

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Department of Psychiatry, University of California San Francisco, San Francisco, CA, USA
Division of Biostatistics, Department of Public Health Sciences, University of California Davis, Davis, CA, USA Medical Investigation of Neurodevelopmental Disorders (MIND) Institute, Sacramento, CA, USA.
Boston University, Boston, MA, USA.
College of Natural Resources, University of California Berkeley, Berkeley, CA, USA.
Medical Investigation of Neurodevelopmental Disorders (MIND) Institute, Sacramento, CA, USA Department of Pediatrics, Davis Medical Center, University of California, Sacramento, CA, USA.


Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disease with motor, psychiatric, and cognitive manifestations that occurs in carriers of the fragile X mental retardation 1 (FMR1) gene premutations. This was a retrospective chart review of 196 individuals (127 men and 69 women) with FXTAS. Forty-six (23%) participants were cognitively impaired, of whom 19 (10%) had dementia. Risk factors for dementia were examined (CGG repeat size; alcohol, benzodiazepine, and opioid use; diabetes; hyperlipidemia; hypertension; hypothyroidism; obesity; sleep apnea; surgeries with general anesthesia; depression; family history of dementia). Thirteen individuals with FXTAS and dementia were then compared to 13 cognitively intact individuals matched on age, gender, and FXTAS stage. CGG repeat size was significantly higher (mean = 98.5, standard deviation [SD] = 22.2) in the dementia group, compared to the cognitively intact group (mean = 81.6, SD = 11.5; P = .0256). These results show that CGG repeat size is a risk factor for FXTAS dementia.


FMR1 premutation; FXTAS; cognitive impairment; dementia

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