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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Λεπτομέρειες βιβλιογραφικής εγγραφής

Κύριοι συγγραφείς:	Keiko Nakamura-Shindo, Kenjiro Ono, Kishin Koh, Hiroyuki Ishiura, Shoji Tsuji, Yoshihisa Takiyama, Masahito Yamada
Μορφή:	Artigo
Γλώσσα:	Inglês
Έκδοση:	Elsevier 2020-06-01
Σειρά:	eNeurologicalSci
Θέματα:	Spastic paraplegia Cataract Corpus callosum Spastic paraplegia gene 46 GBA2
Διαθέσιμο Online:	http://www.sciencedirect.com/science/article/pii/S2405650220300174
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