Article
Episodic ataxia and severe infantile phenotype in spinocerebellar ataxia type 14: expansion of the phenotype and novel mutations.
Journal of neurology - 1 Mar 2022
De Michele Giovanna, Galatolo Daniele, Galosi Serena, Mignarri Andrea, Silvestri Gabriella, Casali Carlo, Leuzzi Vincenzo, Ricca Ivana, Barghigiani Melissa, Tessa Alessandra, Cioffi Ettore, Caputi Caterina, Riso Vittorio, Dotti Maria Teresa, Saccà Francesco, De Michele Giuseppe, Cocozza Sirio, Filla Alessandro, Santorelli Filippo M
Abstract excerpt
INTRODUCTION: Spinocerebellar ataxia type 14 (SCA14) is a dominantly inherited neurological disorder characterized by slowly progressive cerebellar ataxia. SCA14 is caused by mutations in PRKCG, a gene encoding protein kinase C gamma (PKCγ), a master regulator of Purkinje cells development. METHODS: We performed next-generation sequencing targeted resequencing panel encompassing 273 ataxia genes in 358 patients...
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