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Article

A case of complicated spastic paraplegia 2 due to a point mutation in the proteolipid protein 1 gene.

Journal of the neurological sciences - 15 Sept 2004

Lee Eun Sil, Moon Han Ku, Park Yong Hoon, Garbern James, Hobson Grace M

Abstract excerpt

Pelizaeus-Merzbacher disease (PMD) is a rare X-linked dysmyelinating disorder resulting from mutation of the proteolipid protein gene (PLP1). Clinical features of PMD include progressive psychomotor developmental delay, nystagmus, spastic quadriplegia, dystonia, and cerebellar ataxia. PMD is clinically classified into three subtypes according to the severity of the disease: connatal, transitional, and classic...

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Source

Identifiers

PMID: 15450775
DOI: 10.1016/j.jns.2004.05.015

Genes

PLP1

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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A case of complicated spastic paraplegia 2 due to a point mutation in the proteolipid protein 1 gene.PMID 15450775Read ↗

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A novel mutation in PLP1 causes severe hereditary spastic paraplegia type 2.Semantic proximity Read ↗

The molecular and cellular defects underlying Pelizaeus-Merzbacher disease.Semantic proximity Read ↗

Pelizaeus-Merzbacher disease: Genetic and cellular pathogenesis.Semantic proximity Read ↗

Genotype-phenotype correlation in inherited brain myelination defects due to proteolipid protein gene mutations. Clinical European Network on Brain Dysmyelinating Disease.Semantic proximity Read ↗

Three new PLP1 splicing mutations demonstrate pathogenic and phenotypic diversity of Pelizaeus-Merzbacher disease.Semantic proximity Read ↗

Further genotype-phenotype correlation emerging from two families with PLP1 exon 4 skipping.Semantic proximity Read ↗

A novel proteolipid protein 1 gene mutation causing classical type Pelizaeus-Merzbacher disease.Semantic proximity Read ↗

Novel exon 3B proteolipid protein gene mutation causing late-onset spastic paraplegia type 2 with variable penetrance in female family members.Semantic proximity Read ↗

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