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

BACKGROUND: Spastic paraplegia type 4 (SPG4) is caused by mutations in the SPAST gene, is the most common form of autosomal-dominant pure hereditary spastic paraplegias (HSP), and is rarely associated with a complicated form that includes ataxia, epilepsy, and cognitive decline. To date, the genotyp...

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Detalles Bibliográficos
Autores principales: Nan, Haitian, Shiraku, Hiroshi, Mizuno, Tomoko, Takiyama, Yoshihisa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8576993/
https://www.ncbi.nlm.nih.gov/pubmed/34753439
http://dx.doi.org/10.1186/s12883-021-02478-0

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8576993/
https://www.ncbi.nlm.nih.gov/pubmed/34753439
http://dx.doi.org/10.1186/s12883-021-02478-0

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