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Recently, a crucial role of the cerebellum has been highlighted in the pathogenesis of autism spectrum disorders, now recognised as a phenotype expressed in a variable percentage of PHTS children. In addition, rare <jats:italic>PTEN<\/jats:italic> variants are indeed identified in medulloblastoma as well, even if they are less frequent than other germline gene mutations.<\/jats:p><jats:p>The importance of <jats:italic>PTEN<\/jats:italic> and its downstream signalling enzymatic pathways, PI3K\/AKT\/mTOR, has been studied at different levels in both human clinical settings and animal models, not only leading to a better understanding of the pathogenesis of different disorders but, most importantly, to identify potential targets for specific therapies. In particular, <jats:italic>PTEN<\/jats:italic> integrity makes an important contribution to the normal development of tissue architecture in the nervous system, including the cerebellum. Thus, in patients with <jats:italic>PTEN<\/jats:italic> germline mutations, the cerebellum is an affected organ that is increasingly recognised in different disorders, whereas, in animal models, cerebellar <jats:italic>Pten<\/jats:italic> loss causes a variety of functional and histological alterations.<\/jats:p><jats:p>In this review, we summarise the range of cerebellar involvement observed in PHTS and its relationships with germline <jats:italic>PTEN<\/jats:italic> mutations, along with the phenotypes expressed by murine models with <jats:italic>PTEN<\/jats:italic> deficiency in cerebellar tissue.<\/jats:p>","DOI":"10.1111\/nan.12970","type":"journal-article","created":{"date-parts":[[2024,3,20]],"date-time":"2024-03-20T04:54:37Z","timestamp":1710910477000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Cerebellar phenotypes in germline <i>PTEN<\/i> mutation 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