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.

De Michele, G., Galatolo, D., Galosi, S., Mignarri, A., Silvestri, G., Casali, C., Leuzzi, V., Ricca, I., Barghigiani, M., Tessa, A., Cioffi, E., Caputi, C., Riso, V., Dotti, M. T., Sacca, F., De Michele, G., Cocozza, S., Filla, A., Santorelli, F. M., Episodic ataxia and severe infantile phenotype in spinocerebellar ataxia type 14: expansion of the phenotype and novel mutations, <<JOURNAL OF NEUROLOGY>>, 2021; (N/A): 1476-1484. [doi:10.1007/s00415-021-10712-5] [http://hdl.handle.net/10807/182933]

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

Silvestri, Gabriella;
2021

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.
2021
Inglese
De Michele, G., Galatolo, D., Galosi, S., Mignarri, A., Silvestri, G., Casali, C., Leuzzi, V., Ricca, I., Barghigiani, M., Tessa, A., Cioffi, E., Caputi, C., Riso, V., Dotti, M. T., Sacca, F., De Michele, G., Cocozza, S., Filla, A., Santorelli, F. M., Episodic ataxia and severe infantile phenotype in spinocerebellar ataxia type 14: expansion of the phenotype and novel mutations, <<JOURNAL OF NEUROLOGY>>, 2021; (N/A): 1476-1484. [doi:10.1007/s00415-021-10712-5] [http://hdl.handle.net/10807/182933]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/10807/182933
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