A Complex Phenotype of a Patient with Spastic Paraplegia Type 4 Caused by a Novel Pathogenic Variant in the SPAST Gene

Hereditary spastic paraplegias (HSPs) are rare neurological disorders caused by degeneration of the corticospinal tract. Among the 79 causative genes involved in HSPs, variants in SPAST on chromosome 2p22, which encodes the microtubule-severing protein spastin, are responsible for spastic paraplegia...

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Detalles Bibliográficos
Autores principales: Akaba, Yuichi, Takeguchi, Ryo, Tanaka, Ryosuke, Takahashi, Satoru
Formato: Online Artículo Texto
Lenguaje:English
Publicado: S. Karger AG 2021
Materias:
Single Case − General Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8740001/
https://www.ncbi.nlm.nih.gov/pubmed/35082646
http://dx.doi.org/10.1159/000520433

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8740001/
https://www.ncbi.nlm.nih.gov/pubmed/35082646
http://dx.doi.org/10.1159/000520433

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