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We report on the clinical, genetic, neuroimaging, and neurophysiological data of a 15\u2010year\u2010old patient with complex hereditary spastic paraplegias with exotropia, dyskinesia, and cerebellar signs and a so\u2010far unreported demyelinating (mainly sensory) polyneuropathy in her lower limbs. She carries the novel, de novo, likely pathogenic heterozygous c.603_605delinsAATA, p.(Met202Ilefs*6) frameshift variant in the <jats:italic>CTNNB1<\/jats:italic> gene. Although peripheral neuropathy was not previously associated with NEDSDV, in light of the role of \u03b21\u2010catenin as a junction protein in the peripheral as well as in the central nervous system documented in experimental studies, it might represent a causally linked and under\u2010reported finding to be further explored.<\/jats:p>","DOI":"10.1002\/ajmg.a.62902","type":"journal-article","created":{"date-parts":[[2022,7,26]],"date-time":"2022-07-26T06:01:29Z","timestamp":1658815289000},"page":"3118-3120","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Novel <i>CTNNB1<\/i> variant leading to neurodevelopmental disorder with spastic diplegia and visual defects plus peripheral neuropathy: A case 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