{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,6]],"date-time":"2026-04-06T12:07:22Z","timestamp":1775477242809,"version":"3.50.1"},"reference-count":46,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2015,9,4]],"date-time":"2015-09-04T00:00:00Z","timestamp":1441324800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Translational Science Consortium"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2016,1]]},"abstract":"<jats:p>Women who carry <jats:italic>fragile X mental retardation 1 (<jats:styled-content style=\"fixed-case\">FMR1<\/jats:styled-content>)<\/jats:italic>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 (<jats:italic>n<\/jats:italic>\u2009=\u200933) and non\u2010carrier controls (<jats:italic>n<\/jats:italic>\u2009=\u200913) 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 (<jats:italic>n<\/jats:italic>\u2009=\u200946) and average <jats:styled-content style=\"fixed-case\">CGG<\/jats:styled-content> repeat size was 91\u2009\u00b1\u200924.9 in the <jats:italic><jats:styled-content style=\"fixed-case\">FMR1<\/jats:styled-content><\/jats:italic> PMC women. Seventy percent of the PMC women had an abnormal neurological examination. PMC women had significantly higher scores on the Fragile X\u2010Associated Tremor Ataxia Syndrome (<jats:styled-content style=\"fixed-case\">FXTAS<\/jats:styled-content>) rating scale, more neuropathy, and difficulty with tandem gait compared to controls. Central sensitivity syndromes, a neuroticism profile on the <jats:styled-content style=\"fixed-case\">NEO<\/jats:styled-content> 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 <jats:italic><jats:styled-content style=\"fixed-case\">FMR1<\/jats:styled-content><\/jats:italic> premutation may have a phenotype that overlaps with that seen in <jats:styled-content style=\"fixed-case\">FXTAS<\/jats:styled-content>. Additional research with larger sample sizes is warranted to better delineate the clinical features.<\/jats:p>","DOI":"10.1111\/cge.12646","type":"journal-article","created":{"date-parts":[[2015,7,25]],"date-time":"2015-07-25T07:07:31Z","timestamp":1437808051000},"page":"60-67","source":"Crossref","is-referenced-by-count":20,"title":["Neurological and endocrine phenotypes of fragile X carrier women"],"prefix":"10.1111","volume":"89","author":[{"given":"D.","family":"Hall","sequence":"first","affiliation":[{"name":"Department of Neurological Sciences Rush University  Chicago IL USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K.","family":"Todorova\u2010Koteva","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine Rush University  Chicago IL USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S.","family":"Pandya","sequence":"additional","affiliation":[{"name":"Rush Medical College Rush University  Chicago IL 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