A p.Arg499His mutation in SPAST is associated with infantile-onset complicated spastic paraplegia: a case report and review of the literature.

Nan, Haitian; Shiraku, Hiroshi; Mizuno, Tomoko; Takiyama, Yoshihisa

Nan, Haitian; Shiraku, Hiroshi; Mizuno, Tomoko; Takiyama, Yoshihisa.

Afiliação

Nan H; Department of Neurology, Graduate School of Medical Sciences, University of Yamanashi, Yamanashi, 409-3898, Japan.
Shiraku H; Department of Pediatrics, JA Toride Medical Center, Ibaraki, 302-0022, Japan.
Mizuno T; Department of Pediatrics, Tokyo Medical and Dental University, Tokyo, 113-8510, Japan.
Takiyama Y; Department of Neurology, Graduate School of Medical Sciences, University of Yamanashi, Yamanashi, 409-3898, Japan. ytakiyama@yamanashi.ac.jp.

BMC Neurol ; 21(1): 439, 2021 Nov 09.

Article em En | MEDLINE | ID: mdl-34753439

Assuntos

Paraplegia Espástica Hereditária; Humanos; Mutação/genética; Paraplegia/genética; Fenótipo; Paraplegia Espástica Hereditária/genética; Espastina/genética

Palavras-chave

Case report; Complicated form; Hereditary spastic paraplegia; P.Arg499His; SPG4

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Paraplegia Espástica Hereditária Tipo de estudo: Risk_factors_studies Limite: Humans Idioma: En Ano de publicação: 2021 Tipo de documento: Article

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