{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T20:04:56Z","timestamp":1791230696924,"version":"4.1.0"},"reference-count":116,"publisher":"MDPI AG","issue":"3","license":[{"start":{"date-parts":[[2022,1,22]],"date-time":"2022-01-22T00:00:00Z","timestamp":1642809600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJERPH"],"abstract":"<jats:p>Cerebellar agenesis is an extremely rare condition characterized by a near complete absence of the cerebellum. The pathogenesis and molecular basis remain mostly unknown. We report the neuroradiological, molecular, neuropsychological and behavioral characterization of a 5-year-old girl, with cerebellar agenesis associated with parietal and peri-Sylvian polymicrogyria, followed-up for 10 years at four time points. Whole exome sequencing identified two rare variants in CSMD1, a gene associated with neurocognitive and psychiatric alterations. Mild intellectual impairment, cerebellar ataxia and deficits in language, memory and executive functions, with relatively preserved adaptive and psychopathological domains, were initially showed. Phonological awareness and verbal memory declined at 11 years of age, and social and anxiety problems emerged. Adaptive and psychopathological characteristics dramatically worsened at 15 years. In summary, the developmental clinical outcome showed impairment in multiple cognitive functions in childhood, with a progressive decline in cognitive and adaptive abilities and the emergence of psychopathological symptoms in adolescence. The observed phenotype could be the result of a complex interplay between cerebellar abnormality, brain malformation and the relations with CSMD1 variants. These findings may provide insights into the developmental clinical outcomes of a co-occurrence between rare brain malformation and rare genetic variants associated to neurodevelopmental disorders.<\/jats:p>","DOI":"10.3390\/ijerph19031224","type":"journal-article","created":{"date-parts":[[2022,1,23]],"date-time":"2022-01-23T20:32:52Z","timestamp":1642969972000},"page":"1224","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Cerebellar Agenesis and Bilateral Polimicrogyria Associated with Rare Variants of CUB and Sushi Multiple Domains 1 Gene (CSMD1): A Longitudinal Neuropsychological and Neuroradiological Case Study"],"prefix":"10.3390","volume":"19","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0877-9691","authenticated-orcid":false,"given":"Floriana","family":"Costanzo","sequence":"first","affiliation":[{"name":"Child and Adolescent Neuropsychiatry Unit, Department of Neurosciences, Bambino Ges\u00f9 Children\u2019s Hospital IRCCS, Via Ferdinando Baldelli 41, I-00146 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6367-1843","authenticated-orcid":false,"given":"Ginevra","family":"Zanni","sequence":"additional","affiliation":[{"name":"Unit of Neuromuscular and Neurodegenerative Disorders, Department of Neurosciences, Bambino Ges\u00f9 Children\u2019s Hospital, IRCCS, Viale di San Paolo 15, I-00146 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8795-7424","authenticated-orcid":false,"given":"Elisa","family":"Fuc\u00e0","sequence":"additional","affiliation":[{"name":"Child and Adolescent Neuropsychiatry Unit, Department of Neurosciences, Bambino Ges\u00f9 Children\u2019s Hospital IRCCS, Via Ferdinando Baldelli 41, I-00146 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Margherita","family":"Di Paola","sequence":"additional","affiliation":[{"name":"Department of Clinical and Behavioral Neurology, IRCCS Santa Lucia Foundation, Via Ardeatina 306, I-00179 Rome, Italy"},{"name":"Department of Mental Health, King Faisal Specialist Hospital & Research Center, Riyadh 12713, Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7307-388X","authenticated-orcid":false,"given":"Sabina","family":"Barresi","sequence":"additional","affiliation":[{"name":"Pathology Unit, Department of Laboratories, Bambino Ges\u00f9 Children\u2019s Hospital, IRCCS, Viale di San Paolo 15, I-00146 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lorena","family":"Travaglini","sequence":"additional","affiliation":[{"name":"Unit of Neuromuscular and Neurodegenerative Disorders, Department of Neurosciences, Bambino Ges\u00f9 Children\u2019s Hospital, IRCCS, Viale di San Paolo 15, I-00146 Rome, 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Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9276-4590","authenticated-orcid":false,"given":"Enrico","family":"Bertini","sequence":"additional","affiliation":[{"name":"Unit of Neuromuscular and Neurodegenerative Disorders, Department of Neurosciences, Bambino Ges\u00f9 Children\u2019s Hospital, IRCCS, Viale di San Paolo 15, I-00146 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3459-2601","authenticated-orcid":false,"given":"Deny","family":"Menghini","sequence":"additional","affiliation":[{"name":"Child and Adolescent Neuropsychiatry Unit, Department of Neurosciences, Bambino Ges\u00f9 Children\u2019s Hospital IRCCS, Via Ferdinando Baldelli 41, I-00146 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefano","family":"Vicari","sequence":"additional","affiliation":[{"name":"Child and Adolescent Neuropsychiatry Unit, Department of 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