Episodic ataxia and severe infantile phenotype in spinocerebellar ataxia type 14: expansion of the phenotype and novel mutations

Gabriella Silvestri, Giovanna De Michele, Daniele Galatolo, Serena Galosi, Andrea Mignarri, Carlo Casali, Vincenzo Leuzzi, Ivana Ricca, Melissa Barghigiani, Alessandra Tessa, Ettore Cioffi, Caterina Caputi, Maria Teresa Dotti, Francesco Saccà, Giuseppe De Michele, Sirio Cocozza, Alessandro Filla, Filippo M. Santorelli

Risultato della ricerca: Contributo in rivistaArticolo in rivista

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.
Lingua originaleEnglish
pagine (da-a)N/A-N/A
RivistaJournal of Neurology
DOI
Stato di pubblicazionePubblicato - 2021

Keywords

  • Broadened phenotype
  • NGS targeted resequencing panel
  • Novel mutations
  • PRKCG
  • Spinocerebellar ataxia type 14

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