{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T00:53:06Z","timestamp":1760057586181,"version":"build-2065373602"},"reference-count":46,"publisher":"MDPI AG","issue":"4","license":[{"start":{"date-parts":[[2025,2,11]],"date-time":"2025-02-11T00:00:00Z","timestamp":1739232000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100000780","name":"European Union","doi-asserted-by":"publisher","award":["01GM1302 (Cure-FXTAS)","01GM1505 (DrugFXSPreMut)","3038041027","STO488\/9-1 (RU5228 Syntophagy)","362321501 (RTG 2413 SynAGE)"],"award-info":[{"award-number":["01GM1302 (Cure-FXTAS)","01GM1505 (DrugFXSPreMut)","3038041027","STO488\/9-1 (RU5228 Syntophagy)","362321501 (RTG 2413 SynAGE)"]}],"id":[{"id":"10.13039\/501100000780","id-type":"DOI","asserted-by":"publisher"}]},{"name":"German Research Foundation","award":["01GM1302 (Cure-FXTAS)","01GM1505 (DrugFXSPreMut)","3038041027","STO488\/9-1 (RU5228 Syntophagy)","362321501 (RTG 2413 SynAGE)"],"award-info":[{"award-number":["01GM1302 (Cure-FXTAS)","01GM1505 (DrugFXSPreMut)","3038041027","STO488\/9-1 (RU5228 Syntophagy)","362321501 (RTG 2413 SynAGE)"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Fragile X-associated tremor\/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder caused by moderately expanded CGG trinucleotide repeats in the 5\u2032 untranslated region (UTR) of the FMR1 gene. Characterized by motor deficits such as action tremor and cerebellar gait ataxia, FXTAS is further distinguished by ubiquitin-positive intranuclear inclusions in neurons and glia. However, its clinical spectrum often overlaps with other neurodegenerative conditions such as Parkinson\u2019s disease (PD). Sensorimotor gating deficits, commonly associated with disorders affecting the nigrostriatal pathway such as PD, have been reported in FXTAS, but the underlying connection between these two phenotypes remains undetermined. In this study, we used the P90CGG mouse model of FXTAS, which expresses 90 CGG repeats upon doxycycline induction, to investigate sensorimotor gating deficits and their relationship to nigrostriatal degeneration. After induction, the P90CGG model exhibited late-onset impairments in prepulse inhibition (PPI), a cross-species measure of sensorimotor gating. These deficits coincided with pronounced nigrostriatal degeneration but occurred without evidence of inclusion formation in the substantia nigra. Our findings highlight nigrostriatal degeneration, which has not previously been reported in animal models of FXTAS, and suggest a potential link to sensorimotor gating dysfunction within the context of the disorder.<\/jats:p>","DOI":"10.3390\/ijms26041511","type":"journal-article","created":{"date-parts":[[2025,2,11]],"date-time":"2025-02-11T09:36:05Z","timestamp":1739266565000},"page":"1511","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Nigrostriatal Degeneration Underpins Sensorimotor Dysfunction in an Inducible Mouse Model of Fragile X-Associated Tremor\/Ataxia Syndrome (FXTAS)"],"prefix":"10.3390","volume":"26","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6421-4057","authenticated-orcid":false,"given":"Emre","family":"Kul","sequence":"first","affiliation":[{"name":"Department of Genetics & Molecular Neurobiology, Institute of Biology, Otto-von-Guericke University Magdeburg, 39106 Magdeburg, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M\u00f3nica","family":"Santos","sequence":"additional","affiliation":[{"name":"Department of Genetics & Molecular Neurobiology, Institute of Biology, Otto-von-Guericke University Magdeburg, 39106 Magdeburg, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4285-7507","authenticated-orcid":false,"given":"Oliver","family":"Stork","sequence":"additional","affiliation":[{"name":"Department of Genetics & Molecular Neurobiology, Institute of Biology, Otto-von-Guericke University Magdeburg, 39106 Magdeburg, Germany"},{"name":"Center for Behavioral Brain Sciences, 39106 Magdeburg, Germany"},{"name":"Center for Intervention and Research on Adaptive and Maladaptive Brain Circuits Underlying Mental Health (C-I-R-C), Jena-Magdeburg-Halle, 07743 Jena, Germany"},{"name":"German Center for Mental Health (DZPG), Site Jena-Magdeburg-Halle, 07745 Jena, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2025,2,11]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"851","DOI":"10.1007\/s12311-021-01323-x","article-title":"Prevalence of Fragile X-Associated Tremor\/Ataxia Syndrome in Patients with Cerebellar Ataxia in Japan","volume":"21","author":"Higuchi","year":"2021","journal-title":"Cerebellum"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"460","DOI":"10.1001\/jama.291.4.460","article-title":"Penetrance of the Fragile X\u2013Associated Tremor\/Ataxia Syndrome in a Premutation Carrier Population","volume":"291","author":"Jacquemont","year":"2004","journal-title":"JAMA"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"1359","DOI":"10.1038\/ejhg.2009.51","article-title":"Penetrance of FMR1 Premutation Associated Pathologies in Fragile X Syndrome Families","volume":"17","author":"Madrigal","year":"2009","journal-title":"Eur. 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