{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,27]],"date-time":"2026-10-27T08:01:55Z","timestamp":1793088115342,"version":"4.5.0"},"reference-count":54,"publisher":"MDPI AG","issue":"6","license":[{"start":{"date-parts":[[2025,3,20]],"date-time":"2025-03-20T00:00:00Z","timestamp":1742428800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"NICHD","award":["HD036071"],"award-info":[{"award-number":["HD036071"]}]},{"name":"NICHD","award":["NIH P50 HD 103526"],"award-info":[{"award-number":["NIH P50 HD 103526"]}]},{"name":"NICHD","award":["NIH\/NINDS R01 NS125737"],"award-info":[{"award-number":["NIH\/NINDS R01 NS125737"]}]},{"name":"NICHD","award":["NIH\/NIA R21 080923"],"award-info":[{"award-number":["NIH\/NIA R21 080923"]}]},{"name":"MIND Institute IDDRC","award":["HD036071"],"award-info":[{"award-number":["HD036071"]}]},{"name":"MIND Institute IDDRC","award":["NIH P50 HD 103526"],"award-info":[{"award-number":["NIH P50 HD 103526"]}]},{"name":"MIND Institute IDDRC","award":["NIH\/NINDS R01 NS125737"],"award-info":[{"award-number":["NIH\/NINDS R01 NS125737"]}]},{"name":"MIND Institute IDDRC","award":["NIH\/NIA R21 080923"],"award-info":[{"award-number":["NIH\/NIA R21 080923"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Fragile-X-associated tremor\/ataxia syndrome (FXTAS) is a progressive neurodegenerative disorder associated with the FMR1 gene premutation, characterized by the presence of 55 to 200 CGG triplet repeat expansions. Although the initial symptoms of FXTAS typically manifest in males around the age of 60 with motor symptoms and cognitive deficits, the presentation and progression in females differ. Women, in fact, exhibit a higher prevalence of neuropsychiatric symptoms, with an earlier onset compared to the motor symptoms observed in men. The following article reports on ten cases of women with a diagnosis of FMR1 gene premutation, originating from two medical centers. All the women in the study exhibited neuropsychiatric symptoms and subtle neurological signs as common features. Symptoms typically observed in the male population, such as tremors and cerebellar ataxia, were either absent or significantly reduced in the female cohort. Conversely, there was a higher prevalence of neuropsychiatric symptoms among the women. Neurocognitive impairment was only minimally evident, with mild executive dysfunction and memory complaints noted in a subset of cases. For this reason, we propose the terminology preFXTAS or prodromic FXTAS to define a clinical presentation in women characterized by early manifestations of FXTAS that do not entirely fulfill the established diagnostic criteria but exhibit MRI evidence of white matter alterations suggesting the initiation of the disease process. The study underscores the importance of establishing new diagnostic criteria for FXTAS and, at the same time, developing new biomarkers and interview checklists\/assessment scales dedicated to females.<\/jats:p>","DOI":"10.3390\/ijms26062825","type":"journal-article","created":{"date-parts":[[2025,3,21]],"date-time":"2025-03-21T04:58:38Z","timestamp":1742533118000},"page":"2825","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["Premutation Females with preFXTAS"],"prefix":"10.3390","volume":"26","author":[{"ORCID":"https:\/\/orcid.org\/0009-0006-7908-1692","authenticated-orcid":false,"given":"Valentina","family":"Liani","sequence":"first","affiliation":[{"name":"Medical Investigation of Neurodevelopmental Disorders (MIND) Institute, University of California Davis Health, Sacramento, CA 95817, USA"},{"name":"Department of Women\u2019s and Children\u2019s Health, University of Padova, 35122 Padova, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0007-8942-5150","authenticated-orcid":false,"given":"Carme","family":"Torrents","sequence":"additional","affiliation":[{"name":"Medical Investigation of Neurodevelopmental Disorders (MIND) Institute, University of California Davis Health, Sacramento, CA 95817, USA"},{"name":"Unit of Pediatric Neurology, Department of Pediatrics, Hospital Universitari Parc Taul\u00ed, 08208 Sabadell, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisa","family":"Rolleri","sequence":"additional","affiliation":[{"name":"Medical Investigation of Neurodevelopmental Disorders (MIND) Institute, University of California Davis Health, Sacramento, CA 95817, USA"},{"name":"Pediatric Neuropsychiatry Unit, Catholic University, 00153 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nor Azyati","family":"Yusoff","sequence":"additional","affiliation":[{"name":"Medical Investigation of Neurodevelopmental Disorders (MIND) Institute, University of California Davis Health, Sacramento, CA 95817, USA"},{"name":"Department of Pediatrics, Faculty of Medicine and Health Sciences, Universiti Putra Malaysia, Seri Kembangan, Serdang 43400, Selangor, Malaysia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Narueporn","family":"Likhitweerawong","sequence":"additional","affiliation":[{"name":"Medical Investigation of Neurodevelopmental Disorders (MIND) Institute, University of California Davis Health, Sacramento, CA 95817, USA"},{"name":"Department of Pediatrics, Faculty of Medicine, Chiang Mai University, Chiang Mai 50200, Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sydney","family":"Moore","sequence":"additional","affiliation":[{"name":"Medical Investigation of Neurodevelopmental Disorders (MIND) Institute, University of California Davis Health, Sacramento, CA 95817, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"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":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4674-7244","authenticated-orcid":false,"given":"Andrea","family":"Schneider","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":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6301-7262","authenticated-orcid":false,"given":"Ellery","family":"Santos","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":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1786-5847","authenticated-orcid":false,"given":"Hazel M. B.","family":"Biag","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":[{"vocabulary":"crossref","role":"author"}]},{"given":"James A.","family":"Bourgeois","sequence":"additional","affiliation":[{"name":"Department of Psychiatry and Behavioral Sciences, University of California Davis Health, Sacramento, CA 95817, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6745-5550","authenticated-orcid":false,"given":"Kathryn E.","family":"Unruh","sequence":"additional","affiliation":[{"name":"Life Span Institute, Kansas Center for Autism Research and Training, and Clinical Child Psychology Program University of Kansas, Lawrence, KS 66045, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthew W.","family":"Mosconi","sequence":"additional","affiliation":[{"name":"Life Span Institute, Kansas Center for Autism Research and Training, and Clinical Child Psychology Program University of Kansas, Lawrence, KS 66045, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"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"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2025,3,20]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"6","DOI":"10.1086\/302720","article-title":"Elevated levels of FMR1 mRNA in carrier males: A new mechanism of involvement in the fragile-X syndrome","volume":"66","author":"Tassone","year":"2000","journal-title":"Am. 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