Clinical, molecular, and genetic characteristics of the hereditary spastic paraplegia type 3

Clinical, molecular, and genetic characteristics of the hereditary spastic paraplegia type 3

Introduction. The autosomal dominant hereditary spastic paraplegia type 3 (SPG3), associated with the ATL1 gene, is a common form of the hereditary spastic paraplegia (HSP). The molecular genetic and clinical features of the SPG3 have not been sufficiently studied. Study aim: to conduct the first...

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Main Authors: Galina E. Rudenskaya, Varvara A. Kadnikova, Christian Beetz, Tatyana N. Proskokova, Irina G. Sermyagina, Anna A. Stepanova, Valery P. Fedotov, Elena L. Dadaly, Darya M. Guseva, Тatiana V. Markova, Oksana P. Ryzhkova
Format: Article
Language:English
Published: Research Center of Neurology 2020-03-01
Series:Анналы клинической и экспериментальной неврологии
Subjects:
spg3
atl1 gene mutation
high-throughput exon sequencing
mps
incomplete penetrance
clinical picture
combination of diseases
Online Access:https://annaly-nevrologii.com/journal/pathID/article/viewFile/636/506

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