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Article

Genetic landscape of hereditary spastic paraplegias in the Korean population.

Scientific reports - 30 May 2026

Jang Mi-Ae, Jang Ja-Hyun, Kim Byoung Joon, Sung Duk Hyun

Abstract excerpt

Hereditary spastic paraplegia (HSP) is a genetically neurodegenerative disorder with limited epidemiological data in Korea. This study aimed to characterize the genetic landscape of HSP in a large Korean cohort. We analyzed 657 patients with suspected HSP using Sanger sequencing and a targeted next-generation sequencing (NGS) panel covering 54 HSP-related genes. Variants were classified according to American...

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Source

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Identifiers

PMID: 42225730
DOI: 10.1038/s41598-026-53107-0
PMCID: PMC13458517

Genes

SPAST
ATL1
REEP1
SACS

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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