Neurological and endocrine phenotypes of fragile X carrier women.
Neurological and endocrine phenotypes of fragile X carrier women.
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DOI：
10.1111/cge.12646
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发表时间：
2016-01
影响因子：
3.5
通讯作者：
Berry-Kravis E
中科院分区：
文献类型：
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作者：
Hall D;Todorova-Koteva K;Pandya S;Bernard B;Ouyang B;Walsh M;Pounardjian T;Deburghraeve C;Zhou L;Losh M;Leehey M;Berry-Kravis E
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 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 premutation carrier women. Seventy-percent of the premutation carrier women had an abnormal neurological examination. Premutation carrier women had significantly higher scores on the 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.
