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Clin Genet. 2016 Jan;89(1):60-7. doi: 10.1111/cge.12646. Epub 2015 Sep 4.

Neurological and endocrine phenotypes of fragile X carrier women.

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Department of Neurological Sciences, Rush University, Chicago, IL, USA.
Department of Internal Medicine, Rush University, Chicago, IL, USA.
Rush Medical College, Rush University, Chicago, IL, USA.
Department of Anesthesia, University of Illinois, Chicago, IL, USA.
Department of Biochemistry, Rush University, Chicago, IL, USA.
Roxelyn and Richard Pepper Department of Communication Sciences and Disorders, Northwestern University, Evanston, IL, USA.
Department of Neurology, University of Colorado, Aurora, CO, USA.
Department of Pediatrics, Rush University, Chicago, IL, USA.


Women who carry fragile X mental retardation 1 (FMR1)gene premutation expansions frequently report neurological or endocrine symptoms and prior studies have predominantly focused on questionnaire report of medical issues. Premutation carrier (PMC) women (n = 33) and non-carrier controls (n = 13) were recruited and evaluated by a neurologist, neuropsychologist, and endocrinologist. Blood and skin biopsies were collected for molecular measures. Scales for movement disorders, neuropathy, cognitive function, psychiatric symptoms, sleep, and quality of life were completed. The average age of the women was 51 years (n = 46) and average CGG repeat size was 91 ± 24.9 in the FMR1 PMC women. Seventy percent of the PMC women had an abnormal neurological examination. PMC women had significantly higher scores on the Fragile X-Associated Tremor Ataxia Syndrome (FXTAS) rating scale, more neuropathy, and difficulty with tandem gait compared to controls. Central sensitivity syndromes, a neuroticism profile on the NEO Personality Profile, and sleep disorders were also prevalent. Discrepancies between subject report and examination findings were also seen. This pilot study suggests that women with the FMR1 premutation may have a phenotype that overlaps with that seen in FXTAS. Additional research with larger sample sizes is warranted to better delineate the clinical features.


fragile X mental retardation 1 gene; fragile X syndrome; fragile X-associated tremor/ataxia syndrome; premutation

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