Episodic ataxia and severe infantile phenotype in spinocerebellar ataxia type 14: expansion of the phenotype and novel mutations
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Published:2021-07-22
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Volume:
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ISSN:0340-5354
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Container-title:Journal of Neurology
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language:en
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Short-container-title:J Neurol
Author:
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 AlessandroORCID, Santorelli Filippo M.
Abstract
Abstract
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 with genetically undiagnosed ataxia.
Results
We identified fourteen patients in ten families harboring nine pathogenic heterozygous variants in PRKCG, seven of which were novel. We encountered four patients with not previously described phenotypes: one with episodic ataxia, one with a spastic paraparesis dominating her clinical manifestations, and two children with an unusually severe phenotype.
Conclusions
Our study broadens the genetic and clinical spectrum of SCA14.
Funder
AISA Ministero della Salute E-RARE-3 PREPARE PROSPAX Tom Wahlig Foundation Università degli Studi di Napoli Federico II
Publisher
Springer Science and Business Media LLC
Subject
Neurology (clinical),Neurology
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