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Article

Partial SPAST and DPY30 deletions in a Japanese spastic paraplegia type 4 family.

Neurogenetics - 1 Feb 2011

Miura Shiroh, Shibata Hiroki, Kida Hiroshi, Noda Kazuhito, Toyama Takayuki, Iwasaki Naoka, Iwaki Akiko, Ayabe Mitsuyoshi, Aizawa Hisamichi, Taniwaki Takayuki, Fukumaki Yasuyuki

Abstract excerpt

Spastic paraplegia type 4 (SPG4) is the most common autosomal dominant hereditary SPG caused by mutations in the SPAST gene. We studied the four-generation pedigree of a Japanese family with autosomal dominant hereditary SPG both clinically and genetically. Twelve available family members (ten affected; two unaffected) and two spouses were enrolled in the study. The clinical features were hyperreflexia in all...

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Identifiers

PMID: 20857310
DOI: 10.1007/s10048-010-0260-7

Genes

SPAST

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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