{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T22:51:31Z","timestamp":1777503091977,"version":"3.51.4"},"reference-count":30,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2019,6,5]],"date-time":"2019-06-05T00:00:00Z","timestamp":1559692800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2019,8]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Heterozygous missense variants in the\n                    <jats:italic>SPTBN2<\/jats:italic>\n                    gene, encoding the non\u2010erythrocytic beta spectrin 2 subunit (beta\u2010III spectrin), have been identified in autosomal dominant spinocerebellar ataxia type 5 (SCA5), a rare adult\u2010onset neurodegenerative disorder characterized by progressive cerebellar ataxia, whereas homozygous loss of function variants in\n                    <jats:italic>SPTBN2<\/jats:italic>\n                    have been associated with early onset cerebellar ataxia and global developmental delay (SCAR14). Recently, heterozygous\n                    <jats:italic>SPTBN2<\/jats:italic>\n                    missense variants have been identified in a few patients with an early\u2010onset ataxic phenotype. We report five patients with non\u2010progressive congenital ataxia and psychomotor delay, 4\/5 harboring novel heterozygous missense variants in\n                    <jats:italic>SPTBN2<\/jats:italic>\n                    and one patient with compound heterozygous\n                    <jats:italic>SPTBN2<\/jats:italic>\n                    variants. With an overall prevalence of 5% in our cohort of unrelated patients screened by targeted next\u2010generation sequencing (NGS) for congenital or early\u2010onset cerebellar ataxia, this study indicates that both dominant and recessive mutations of\n                    <jats:italic>SPTBN2<\/jats:italic>\n                    together with\n                    <jats:italic>CACNA1A<\/jats:italic>\n                    and\n                    <jats:italic>ITPR1,<\/jats:italic>\n                    are a frequent cause of early\u2010onset\/congenital non\u2010progressive ataxia and that their screening should be implemented in this subgroup of disorders.\n                  <\/jats:p>","DOI":"10.1111\/cge.13562","type":"journal-article","created":{"date-parts":[[2019,5,8]],"date-time":"2019-05-08T05:30:39Z","timestamp":1557293439000},"page":"169-175","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":34,"title":["Heterozygous missense variants of\n                    <i>SPTBN2<\/i>\n                    are a frequent cause of congenital cerebellar ataxia"],"prefix":"10.1111","volume":"96","author":[{"given":"Francesco","family":"Nicita","sequence":"first","affiliation":[{"name":"Unit of Muscular and Neurodegenerative Diseases, Department of Neurosciences Bambino Ges\u00f9 Children's Hospital  Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marta","family":"Nardella","sequence":"additional","affiliation":[{"name":"Unit of Muscular and Neurodegenerative Diseases, Department of Neurosciences Bambino Ges\u00f9 Children's Hospital  Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emanuele","family":"Bellacchio","sequence":"additional","affiliation":[{"name":"Genetics and Rare Diseases Research Division Bambino Ges\u00f9 Children's Hospital  Rome 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