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Article

Four mutations of the spastin gene in Japanese families with spastic paraplegia.

Journal of human genetics - 1 Jan 2006

Basri Rehana, Yabe Ichiro, Soma Hiroyuki, Takei Asako, Nishimura Hiroyuki, Machino Yuka, Kokubo Yasumasa, Kosugi Masafumi, Okada Ryuichirou, Yukitake Motohiro, Tachibana Hisao, Kuroda Yasuo, Kuzuhara Shigeki, Sasaki Hidenao

Abstract excerpt

Hereditary spastic paraplegia (HSP) is a group of genetically heterogeneous neurodegenerative disorders characterized by slowly progressive spasticity and weakness of the lower limbs. HSP is caused by failure of development or selective degeneration of the corticospinal tracts, which contain the longest axons in humans. The most common form of HSP is caused by mutations of the spastin gene (SPAST), located on...

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Identifiers

PMID: 16788734
DOI: 10.1007/s10038-006-0412-7

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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