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Article

A novel missense mutation (I344K) in the SPG4gene in a Korean family with autosomal-dominant hereditary spastic paraplegia.

Journal of human genetics - 1 Jan 2002

Ki Chang-Seok, Lee Won Yong, Han Do Hoon, Sung Duk Hyun, Lee Kyung-Bok, Lee Kyung-A, Cho Sang Seon, Cho Seunghee, Hwang Hyokkee, Sohn Kwang Min, Choi Yeun Joo, Kim Jong-Won

Abstract excerpt

Hereditary spastic paraplegia (HSP) is a group of clinically and genetically heterogeneous neurodegenerative disorders characterized by slowly progressive spasticity and weakness of the lower extremities. Among eight loci linked with autosomal-dominant (AD)-HSP, the SPG4 locus on chromosome 2p22...

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Source

Identifiers

PMID: 12202986
DOI: 10.1007/s100380200068

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-12202986-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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