Episodic ataxia and severe infantile phenotype in spinocerebellar ataxia type 14: expansion of the phenotype and novel mutations.
Broadened phenotype
NGS targeted resequencing panel
Novel mutations
PRKCG
Spinocerebellar ataxia type 14
Journal
Journal of neurology
ISSN: 1432-1459
Titre abrégé: J Neurol
Pays: Germany
ID NLM: 0423161
Informations de publication
Date de publication:
Mar 2022
Mar 2022
Historique:
received:
03
04
2021
accepted:
10
07
2021
revised:
08
07
2021
pubmed:
23
7
2021
medline:
23
2
2022
entrez:
22
7
2021
Statut:
ppublish
Résumé
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. We performed next-generation sequencing targeted resequencing panel encompassing 273 ataxia genes in 358 patients with genetically undiagnosed ataxia. 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. Our study broadens the genetic and clinical spectrum of SCA14.
Identifiants
pubmed: 34292398
doi: 10.1007/s00415-021-10712-5
pii: 10.1007/s00415-021-10712-5
pmc: PMC8857164
doi:
Substances chimiques
protein kinase C gamma
EC 2.7.1.-
Protein Kinase C
EC 2.7.11.13
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
1476-1484Subventions
Organisme : AISA
ID : 01.2019
Organisme : Ministero della Salute
ID : RF-2016-02361610
Organisme : E-RARE-3 PREPARE
ID : 3398
Organisme : PROSPAX
ID : 2020
Organisme : Tom Wahlig Foundation
ID : 2020
Informations de copyright
© 2021. The Author(s).
Références
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