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A Japanese hereditary spastic paraplegia family with a rare nonsynonymous variant in the SPAST gene

Spastic paraplegia (SPG) type 4 is an autosomal dominant SPG caused by functional variants in the SPAST gene. We examined a Japanese family with three autosomal dominant SPG patients. These patients presented with typical symptoms of SPG, such as spasticity of the lower limbs. We identified a rare n...

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Библиографические подробности
Опубликовано в: :Hum Genome Var
Главные авторы: Morikawa, Takuya, Miura, Shiroh, Tateishi, Takahisa, Noda, Kazuhito, Shibata, Hiroki
Формат: Artigo
Язык:Inglês
Опубликовано: Nature Publishing Group UK 2021
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Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC8149642/
https://ncbi.nlm.nih.gov/pubmed/34035234
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41439-021-00153-x
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