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Article

Mutational spectrum of the SPAST and ATL1 genes in Korean patients with hereditary spastic paraplegia.

Journal of the neurological sciences - 15 Oct 2015

Park Hyunwoong, Kang Seong-Ho, Park Seungman, Kim So Yeon, Seo Soo Hyun, Lee Seung Jun, Lee Jung Ae, Cho Sung Im, Sung Jung-Joon, Lee Kwang-Woo, Kim Ji Yeon, Park Sung Sup, Seong Moon-Woo

Abstract excerpt

Hereditary spastic paraplegia (HSP) is a genetically heterogeneous group of diseases characterized by insidiously progressive lower-extremity weakness and spasticity. Spastic paraplegia 4 (SPAST) is the most common type of uncomplicated autosomal dominant HSP (40% of such cases), and spastic paraplegia 3A (ATL1) is the second most common. Here, we conducted mutational analysis of the SPAST and/or ATL1 genes in...

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Source

Identifiers

PMID: 26208798
DOI: 10.1016/j.jns.2015.07.024

Genes

SPAST
ATL1

Provenance

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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