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Article

PLP1 gene mutations cause spastic paraplegia type 2 in three families.

Annals of clinical and translational neurology - 1 Mar 2023

Yao Li, Zhu Zeyu, Zhang Chao, Tian Wotu, Cao Li

Abstract excerpt

OBJECTIVE: Spastic paraplegia type 2 (SPG2) is an X-linked recessive (XLR) form of hereditary spastic paraplegia (HSP) caused by mutations in proteolipid protein 1 (PLP1) gene. We described the clinical and genetic features of three unrelated families with PLP1 mutations and reviewed PLP1-related cases worldwide to summarize the genotype-phenotype correlations. METHODS: The three probands were 23, 26, and...

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Identifiers

PMID: 36622199
DOI: 10.1002/acn3.51722
PMCID: PMC10014006

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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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