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

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 W...

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Veröffentlicht in:Journal of neurology Jg. 269; H. 3; S. 1476 - 1484
Hauptverfasser: 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.
Format: Journal Article
Sprache:Englisch
Veröffentlicht: Berlin/Heidelberg Springer Berlin Heidelberg 01.03.2022
Springer Nature B.V
Schlagworte:
Ataxia
Cerebellar ataxia
Cerebellum
Female
Genotype & phenotype
Hereditary spastic paraplegia
Heterozygote
Humans
Kinases
Medicine
Medicine & Public Health
Mutation
Neurology
Neuroradiology
Neurosciences
Next-generation sequencing
Original Communication
Patients
Phenotype
Phenotypes
Protein kinase C
Protein Kinase C - genetics
Purkinje cells
Spinocerebellar Ataxias - diagnosis
Spinocerebellar Ataxias - genetics
NGS targeted resequencing panel
Novel mutations
Spinocerebellar ataxia type 14
Broadened phenotype
PRKCG
ISSN:0340-5354, 1432-1459, 1432-1459
Online-Zugang:Volltext
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Zusammenfassung: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.
Bibliographie:ObjectType-Article-1
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ISSN:0340-5354
1432-1459
1432-1459
DOI:10.1007/s00415-021-10712-5