{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,12]],"date-time":"2025-12-12T13:51:04Z","timestamp":1765547464308,"version":"build-2065373602"},"reference-count":44,"publisher":"MDPI AG","issue":"11","license":[{"start":{"date-parts":[[2025,11,4]],"date-time":"2025-11-04T00:00:00Z","timestamp":1762214400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Background\/Objectives: Fragile X-associated tremor\/ataxia syndrome (FXTAS) is characterized by tremor, gait ataxia, and cerebellar white matter degeneration, along with possible cognitive and cerebral changes. Although diagnostic criteria were originally developed in males, emerging evidence suggests that FXTAS may present differently in females. The present study examined sensorimotor and memory features of aging in female premutation carriers with (FXTAS+) and without FXTAS (FXTAS\u2212). Methods: We studied 51 female premutation carriers (FXTAS+ = 16, FXTAS\u2212 = 35) and 24 age-matched female controls. Participants ranged in age from 47\u201380 years. All participants completed genetic testing, clinical evaluations, T2-weighted MRIs, and quantitative assessments of sensorimotor (precision grip force task) and memory (reading span; visual paired associates task) functions. Results: During precision grip testing, FXTAS+ carriers showed higher sustained force regularity than FXTAS\u2212 carriers (p = 0.03, d = 1.0) and controls (p = 0.004, d = 1.1) at low gain levels only. FXTAS+ participants were slower than controls on motor reaction time (p = 0.009, d = 0.82). Initial force output was higher in FXTAS+ than FXTAS\u2212 carriers (p = 0.03, d = 1.0) and controls (p = 0.03, d = 1.0) but at low gain only. FXTAS+ carriers exhibited poorer working memory than FXTAS\u2212 carriers (p = 0.03, d = 0.91) and controls (p = 0.02, d = 1.0). During a long-term memory task, FXTAS+ participants were less accurate than FXTAS\u2212 carriers (p = 0.04, d = 0.86) and controls (p = 0.004, d = 1.1) and showed increased reaction times relative to FXTAS\u2212 carriers (p = 0.03, d = \u22120.82) and controls (p = 0.01, d = \u22121.2). Conclusions: Together, these findings indicate that FXTAS+ females exhibit distinct motor and cognitive impairments, underscoring the value of quantitative behavioral measures for detecting and tracking neurodegenerative progression in female premutation carriers.<\/jats:p>","DOI":"10.3390\/genes16111331","type":"journal-article","created":{"date-parts":[[2025,11,4]],"date-time":"2025-11-04T11:11:16Z","timestamp":1762254676000},"page":"1331","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Reduced Sensorimotor, Working Memory, and Episodic Memory Abilities in Aging Female FMR1 Premutation Carriers with and Without Fragile X-Associated Tremor\/Ataxia Syndrome (FXTAS)"],"prefix":"10.3390","volume":"16","author":[{"given":"Kristen","family":"McGatlin","sequence":"first","affiliation":[{"name":"Department of Psychological Sciences, Kansas State University, Manhattan, KS 66506, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7211-3501","authenticated-orcid":false,"given":"Robin L.","family":"Shafer","sequence":"additional","affiliation":[{"name":"Kansas Center for Autism Research and Training, Life Span Institute, University of Kansas, Lawrence, KS 66045, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6745-5550","authenticated-orcid":false,"given":"Kathryn E.","family":"Unruh","sequence":"additional","affiliation":[{"name":"Kansas Center for Autism Research and Training, Life Span Institute, University of Kansas, Lawrence, KS 66045, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0006-3097-0608","authenticated-orcid":false,"given":"Cassandra J.","family":"Stevens","sequence":"additional","affiliation":[{"name":"Kansas Center for Autism Research and Training, Life Span Institute, University of Kansas, Lawrence, KS 66045, USA"},{"name":"Department of Clinical Child Psychology, University of Kansas, Lawrence, KS 66045, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sophia G.","family":"Peterson","sequence":"additional","affiliation":[{"name":"Kansas Center for Autism Research and Training, Life Span Institute, University of Kansas, Lawrence, KS 66045, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Richard M.","family":"Dubinsky","sequence":"additional","affiliation":[{"name":"Department of Neurology, University of Kansas Medical Center, Kansas City, KS 66160, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrea P.","family":"Lee","sequence":"additional","affiliation":[{"name":"Department of Neurology, University of Kansas Medical Center, Kansas City, KS 66160, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6388-9180","authenticated-orcid":false,"given":"Flora","family":"Tassone","sequence":"additional","affiliation":[{"name":"Medical Investigation of Neurodevelopmental Disorders (MIND) Institute, University of California Davis Health, Sacramento, CA 95817, USA"},{"name":"Department of Biochemistry and Molecular Medicine, School of Medicine, University of California Davis Health, Sacramento, CA 95616, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5029-8448","authenticated-orcid":false,"given":"Randi J.","family":"Hagerman","sequence":"additional","affiliation":[{"name":"Medical Investigation of Neurodevelopmental Disorders (MIND) Institute, University of California Davis Health, Sacramento, CA 95817, USA"},{"name":"Department of Pediatrics, School of Medicine, University of California Davis Health, Sacramento, CA 95616, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0953-3212","authenticated-orcid":false,"given":"Heather","family":"Bailey","sequence":"additional","affiliation":[{"name":"Department of Psychological Sciences, Kansas State University, Manhattan, KS 66506, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Matthew W.","family":"Mosconi","sequence":"additional","affiliation":[{"name":"Kansas Center for Autism Research and Training, Life Span Institute, University of Kansas, Lawrence, KS 66045, USA"},{"name":"Department of Clinical Child Psychology, University of Kansas, Lawrence, KS 66045, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2025,11,4]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"127","DOI":"10.1212\/WNL.57.1.127","article-title":"Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile 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