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Article

Large deletion involving the 5'-UTR in the spastin gene caused mild phenotype of autosomal dominant hereditary spastic paraplegia.

American journal of medical genetics. Part A - 15 Feb 2005

Iwanaga Hiroshi, Tsujino Akira, Shirabe Susumu, Eguchi Hiroto, Fukushima Naomi, Niikawa Norio, Yoshiura Koh-Ichiro, Eguchi Katsumi

Abstract excerpt

Hereditary spastic paraplegia (HSP) due to mutations in the spastin gene (SPG4) located to 2p22-p21 is the most common form of autosomal dominant (AD) HSP. We performed PCR-based direct sequencing of SPG4, followed by a linkage analysis and subsequent Southern blot analysis in large Japanese kindred where 20 of 33 members were evaluated neurologically, and consequently 6 were affected with HSP. Clinical...

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Identifiers

PMID: 15637712
DOI: 10.1002/ajmg.a.30510

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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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