{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,4]],"date-time":"2026-03-04T16:48:49Z","timestamp":1772642929608,"version":"3.50.1"},"reference-count":52,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2021,10,15]],"date-time":"2021-10-15T00:00:00Z","timestamp":1634256000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100004587","name":"Instituto de Salud Carlos III","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004587","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Psychiatry"],"abstract":"<jats:p><jats:italic>FMR1<\/jats:italic> premutation is defined by 55\u2013200 CGG repeats in the Fragile X Mental Retardation 1 (<jats:italic>FMR1<\/jats:italic>) gene. <jats:italic>FMR1<\/jats:italic> premutation carriers are at risk of developing a neurodegenerative disease called fragile X-associated tremor\/ataxia syndrome (FXTAS) and Fragile X-associated primary ovarian insufficiency (FXPOI) in adulthood. In the last years an increasingly board spectrum of clinical manifestations including psychiatric disorders have been described as occurring at a greater frequency among <jats:italic>FMR1<\/jats:italic> premutation carriers. Herein, we reviewed the neuroimaging findings reported in relation with psychiatric symptomatology in adult <jats:italic>FMR1<\/jats:italic> premutation carriers. A structured electronic literature search was conducted on <jats:italic>FMR1<\/jats:italic> premutation and neuroimaging yielding a total of 3,229 articles examined. Of these, 7 articles were analyzed and are included in this review. The results showed that the main radiological findings among adult <jats:italic>FMR1<\/jats:italic> premutation carriers presenting neuropsychiatric disorders were found on the amygdala and hippocampus, being the functional abnormalities more consistent and the volumetric changes more inconsistent among studies. From a molecular perspective, CGG repeat size, <jats:italic>FMR1<\/jats:italic> mRNA and FMRP levels have been investigated in relation with the neuroimaging findings. Based on the published results, FMRP might play a key role in the pathophysiology of the psychiatric symptoms described among <jats:italic>FMR1<\/jats:italic> premutation carriers. However, additional studies including further probes of brain function and a broader scope of psychiatric symptom measurement are required in order to obtain a comprehensive landscape of the neuropsychiatric phenotype associated with the <jats:italic>FMR1<\/jats:italic> premutation.<\/jats:p>","DOI":"10.3389\/fpsyt.2021.728952","type":"journal-article","created":{"date-parts":[[2021,10,16]],"date-time":"2021-10-16T02:42:58Z","timestamp":1634352178000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":2,"title":["Neuroimaging Insight Into Fragile X-Associated Neuropsychiatric Disorders: Literature Review"],"prefix":"10.3389","volume":"12","author":[{"given":"Andrea","family":"Elias-Mas","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria 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