Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2016 Nov;29(6):328-337.
doi: 10.1177/0891988716666379. Epub 2016 Sep 21.

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

Andreea L Seritan  1 , Kyoungmi Kim  2   3 , Ian Benjamin  4 , Ioana Seritan  5 , Randi J Hagerman  3   6
Affiliations

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

Andreea L Seritan et al. J Geriatr Psychiatry Neurol. 2016 Nov.

Abstract

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.

Keywords: FMR1 premutation; FXTAS; cognitive impairment; dementia.

PubMed Disclaimer

References

    1. Juncos JL, Lazarus JT, Graves-Allen E, et al. New clinical findings in the fragile X-associated tremor ataxia syndrome (FXTAS) Neurogenetics. 2011;12:123–125. - PMC - PubMed
    1. Hagerman PJ, Hagerman RJ. Fragile X-associated tremor/ataxia syndrome. Ann NY Acad Sci. 2015;1338:58–70. - PMC - PubMed
    1. Coffey SM, Cook K, Tartaglia N, et al. Expanded clinical phenotype of women with the FMR1 premutation. Am J Med Genet. 2008;146:1009–1016. - PMC - PubMed
    1. Rodriguez-Revenga L, Madrigal I, Pagonabarraga J, et al. Penetrance of FMR1 premutation associated pathologies in fragile X syndrome families. Eur J Hum Genet. 2009;17:1359–1362. - PMC - PubMed
    1. Seritan AL, Bourgeois JA, Schneider A, et al. Ages of onset of mood and anxiety disorders in fragile X premutation carriers. Curr Psychiatry Rev. 2013;9:65–71. - PMC - PubMed