{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,1]],"date-time":"2026-05-01T02:54:37Z","timestamp":1777604077094,"version":"3.51.4"},"reference-count":26,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2021,6,12]],"date-time":"2021-06-12T00:00:00Z","timestamp":1623456000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100009633","name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development","doi-asserted-by":"publisher","award":["R01 HD082110"],"award-info":[{"award-number":["R01 HD082110"]}],"id":[{"id":"10.13039\/100009633","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009633","name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development","doi-asserted-by":"publisher","award":["U54 HD090256"],"award-info":[{"award-number":["U54 HD090256"]}],"id":[{"id":"10.13039\/100009633","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["movementdisorders.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Movement Disorders"],"published-print":{"date-parts":[[2021,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Premutation\u2010sized (55\u2013200) CGG repeat expansions in the <jats:italic>FMR1<\/jats:italic> gene cause fragile X\u2010associated tremor\/ataxia syndrome (FXTAS). Most studies of premutation carriers utilized reverse ascertainment to identify patients, leading to a selection bias for larger repeats. As shorter CGG premutation repeats are common in the population, understanding their impact on health outcomes has a potentially large public health footprint.<\/jats:p><\/jats:sec><jats:sec><jats:title>Objective<\/jats:title><jats:p>The study's objective was to compare an unselected group of premutation carriers (n\u00a0=\u00a035, 55\u2013101 CGG repeats) with matched controls (n\u00a0=\u00a061, 29\u201339 CGG repeats) with respect to FXTAS\u2010type signs using structured neurological assessments.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Three neurologists independently rated signs, using an adapted version of the FXTAS Rating Scale (Leehey MA, Berry\u2010Kravis E, Goetz CG, et al. FMR1 CGG repeat length predicts motor dysfunction in premutation carriers. <jats:italic>Neurology<\/jats:italic>. 2008). This was a double\u2010blind study, as genetic status (premutation vs. control) was known neither by the participants nor by any of the neurologists. Analyses controlled potentially confounding comorbid conditions in the electronic health record (eg, osteoarthritis and stroke) and probed the association of age with signs.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Although there was no overall difference between carriers and controls, among individuals without any potentially confounding comorbid diagnoses, there was a statistically significant age\u2010associated elevation in FXTAS\u2010type signs in premutation carriers compared to controls.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Among those who do not have other comorbid diagnoses, women who have CGG repeats at the lower end of the premutation range may be at greater risk for ataxia and parkinsonism than their age peers, although their overall risk of developing such clinical features is low. This study should provide reassurance to those who share characteristics with the present cohort. \u00a9 2021 International Parkinson and Movement Disorder Society<\/jats:p><\/jats:sec>","DOI":"10.1002\/mds.28683","type":"journal-article","created":{"date-parts":[[2021,6,12]],"date-time":"2021-06-12T07:30:41Z","timestamp":1623483041000},"page":"2378-2386","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Mild Neurological Signs in <i>FMR1<\/i> Premutation Women in an Unselected Community\u2010Based Cohort"],"prefix":"10.1002","volume":"36","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6548-2096","authenticated-orcid":false,"given":"Marsha R.","family":"Mailick","sequence":"first","affiliation":[{"name":"Waisman Center University of Wisconsin\u2010Madison  Madison Wisconsin 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