A novel mutation in the GBA2 gene in a Japanese patient with SPG46: A case report

A novel mutation in the GBA2 gene in a Japanese patient with SPG46: A case report

Hereditary spastic paraplegia (HSP) is a neurodegenerative disorder characterized by pyramidal weakness and spasticity of the lower limbs. SPG46, one of autosomal recessive HSP, is clinically characterized by spasticity and pyramidal weakness of the lower limbs, mental retardation, congenital bilate...

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Bibliographic Details
Main Authors: Keiko Nakamura-Shindo, Kenjiro Ono, Kishin Koh, Hiroyuki Ishiura, Shoji Tsuji, Yoshihisa Takiyama, Masahito Yamada
Format: Article
Language:English
Published: Elsevier 2020-06-01
Series:eNeurologicalSci
Subjects:
Spastic paraplegia
Cataract
Corpus callosum
Spastic paraplegia gene 46
GBA2
Online Access:http://www.sciencedirect.com/science/article/pii/S2405650220300174

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http://www.sciencedirect.com/science/article/pii/S2405650220300174

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