{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,21]],"date-time":"2025-09-21T18:06:51Z","timestamp":1758478011445,"version":"3.41.2"},"reference-count":64,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2023,11,16]],"date-time":"2023-11-16T00:00:00Z","timestamp":1700092800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Hum. Neurosci."],"abstract":"<jats:p>Aging <jats:italic>FMR1<\/jats:italic> premutation carriers are at risk of developing neurodegenerative disorders, including fragile X-associated tremor\/ataxia syndrome (FXTAS), and there is a need to identify biomarkers that can aid in identification and treatment of these disorders. While FXTAS is more common in males than females, females can develop the disease, and some evidence suggests that patterns of impairment may differ across sexes. Few studies include females with symptoms of FXTAS, and as a result, little information is available on key phenotypes for tracking disease risk and progression in female premutation carriers. Our aim was to examine quantitative motor and cognitive traits in aging premutation carriers. We administered oculomotor tests of visually guided\/reactive saccades (motor) and antisaccades (cognitive control) in 22 premutation carriers (73% female) and 32 age- and sex-matched healthy controls. Neither reactive saccade latency nor accuracy differed between groups. <jats:italic>FMR1<\/jats:italic> premutation carriers showed increased antisaccade latencies relative to controls, both when considering males and females together and when analyzing females separately. Reduced saccade accuracy and increased antisaccade latency each were associated with more severe clinically rated neuromotor impairments. Findings indicate that together male and female premutation carriers show a reduced ability to rapidly exert volitional control over prepotent responses and that quantitative differences in oculomotor behavior, including control of visually guided and antisaccades, may track with FXTAS \u2013 related degeneration in male and female premutation carriers.<\/jats:p>","DOI":"10.3389\/fnhum.2023.1271158","type":"journal-article","created":{"date-parts":[[2023,11,16]],"date-time":"2023-11-16T18:13:22Z","timestamp":1700158402000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":2,"title":["Sensorimotor and inhibitory control in aging FMR1 premutation carriers"],"prefix":"10.3389","volume":"17","author":[{"given":"Heather","family":"Fielding-Gebhardt","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shannon E.","family":"Kelly","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kathryn E.","family":"Unruh","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lauren M.","family":"Schmitt","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stormi L.","family":"Pulver","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pravin","family":"Khemani","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Matthew W.","family":"Mosconi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2023,11,16]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","first-page":"851","DOI":"10.1212\/01.wnl.0000269781.10417.7b","article-title":"Volumetric brain changes in females with fragile X-associated tremor\/ataxia syndrome (FXTAS)","volume":"69","author":"Adams","year":"2007","journal-title":"Neurology"},{"key":"ref9001","doi-asserted-by":"crossref","first-page":"37","DOI":"10.3988\/jcn.2020.16.1.37","article-title":"A Cortical Substrate for Square-Wave Jerks in Progressive Supranuclear Palsy","volume":"16","author":"Anagnostou","year":"2020","journal-title":"J Clin Neurol."},{"key":"ref9002","doi-asserted-by":"crossref","first-page":"1890","DOI":"10.1007\/s00415-010-5632-2","article-title":"Huntington\u2019s disease: changes in saccades and hand-tapping over 3 years","volume":"257","author":"Antoniades","year":"2010","journal-title":"J Neurol."},{"key":"ref2","doi-asserted-by":"publisher","first-page":"1898","DOI":"10.1212\/WNL.0b013e318271f7ff","article-title":"FXTAS: new insights and the need for revised diagnostic criteria","volume":"79","author":"Apartis","year":"2012","journal-title":"Neurology"},{"key":"ref3","doi-asserted-by":"publisher","first-page":"546","DOI":"10.1007\/s12311-016-0776-y","article-title":"A majority of FXTAS cases present with intranuclear inclusions within Purkinje cells","volume":"15","author":"Ariza","year":"2016","journal-title":"Cerebellum"},{"key":"ref9003","doi-asserted-by":"publisher","first-page":"502","DOI":"10.1111\/opo.12131","article-title":"When to use the Bonferroni correction","volume":"34","author":"Armstrong","year":"2014","journal-title":"Ophthalmic Physiol Opt."},{"key":"ref4","doi-asserted-by":"publisher","first-page":"563","DOI":"10.1007\/s00234-019-02357-z","article-title":"The splenium of the corpus callosum: embryology, anatomy, function and imaging with pathophysiological hypothesis","volume":"62","author":"Blaauw","year":"2020","journal-title":"Neuroradiology"},{"key":"ref9004","doi-asserted-by":"crossref","first-page":"5707","DOI":"10.1167\/iovs.09-3538","article-title":"Test\u2013Retest Reliability of Saccadic Measures in Subjects at Risk for Huntington Disease","volume":"50","author":"Blekher","year":"2009","journal-title":"Investigative Ophthalmology and Visual Science"},{"key":"ref5","doi-asserted-by":"publisher","first-page":"853","DOI":"10.1080\/13803390701819044","article-title":"The primary cognitive deficit among males with fragile X-associated tremor\/ataxia syndrome (FXTAS) is a dysexecutive syndrome","volume":"30","author":"Brega","year":"2008","journal-title":"J Clin Exp Neuropsyc."},{"key":"ref6","first-page":"1757","article-title":"Fragile X premutation carriers: characteristic MR imaging findings of adult male patients with progressive cerebellar and cognitive dysfunction","volume":"23","author":"Brunberg","year":"2002","journal-title":"AJNR Am. 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