Infantile-Onset Paroxysmal Movement Disorder and Episodic Ataxia Associated with a TBC1D24 Mutation

We present the case of a 22-month-old male with infantile-onset paroxysmal episodes of facial and limb myoclonus. The episodes were linked to biallelic variants in exon 2 of the TBC1D24 gene that lead to amino acid changes (c.304C >T/p.Pro102Ser and c.410T > C/p.Val137Ala), each variant being inherited from a parent. Follow-up imaging in adolescence revealed widened right cerebellar sulci. We discuss the evolving landscape of TBC1D24 associated phenotypes; this case adds to a growing body of evidence linking this gene to movement disorders in children. [...] Georg Thieme Verlag KG Stuttgart · New YorkArticle in Thieme eJournals: Table of contents  |  Abstract  |  Full text

Source: Neuropediatrics - June 20, 2019 Category: Neurology Authors: Zimmern, Vincent Riant, Florence Roze, Emmanuel Ranza, Emmanuelle Lehmann-Horn, Frank Bellescize, Julitta de Ville, Doroth ée Lesca, Gaetan Korff, Christian M. Tags: Short Communication Source Type: research