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

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

Abstract 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...

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Bibliographic Details
Main Authors: Takuya Morikawa, Shiroh Miura, Takahisa Tateishi, Kazuhito Noda, Hiroki Shibata
Format: Article
Language:English
Published: Nature Publishing Group 2021-05-01
Series:Human Genome Variation
Online Access:https://doi.org/10.1038/s41439-021-00153-x

Internet

https://doi.org/10.1038/s41439-021-00153-x

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