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Article

A Japanese SPG4 Patient with a Confirmed De Novo Mutation of the SPAST Gene.

Internal medicine (Tokyo, Japan) - 15 Sept 2020

Nan Haitian, Okamoto Kensho, Gao Lihua, Morishima Yuto, Ichinose Yuta, Koh Kishin, Hashiyada Masaki, Adachi Noboru, Takiyama Yoshihisa

Abstract excerpt

Spastic paraplegia type 4 (SPG4) is caused by mutations of the SPAST gene and is the most common form of autosomal-dominantly inherited pure hereditary spastic paraplegia (HSP). We herein report a Japanese patient with SPG4 with a confirmed de novo mutation of SPAST. On exome sequencing and Sanger sequencing, we identified the heterozygous missense mutation p.R460L in the SPAST gene. This mutation was absent in...

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Identifiers

PMID: 32522921
DOI: 10.2169/internalmedicine.4599-20
PMCID: PMC7578612

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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