A p.Arg499His mutation in SPAST is associated with infantile-onset complicated spastic paraplegia: a case report and review of the literature
Abstract 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...
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| Huvudupphov: | , , , |
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| Materialtyp: | Artigo |
| Språk: | Inglês |
| Utgiven: |
BMC
2021-11-01
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| Serie: | BMC Neurology |
| Ämnen: | |
| Länkar: | https://doi.org/10.1186/s12883-021-02478-0 |
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