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Article

Refined genetic mapping and proteolipid protein mutation analysis in X-linked pure hereditary spastic paraplegia.

Neurology - 1 Apr 1996

Cambi F, Tang X M, Cordray P, Fain P R, Keppen L D, Barker D F

Abstract excerpt

X-linked hereditary spastic paraplegias (HSP) present with two distinct phenotypes, pure and complicated. The pure form is characterized by spasticity and gait difficulties but lacks the additional features (nystagmus, dysarthria, mental retardation) present in the complicated form. The complicated form is heterogeneous, caused by mutations of the L1CAM gene at Xq28 (SPG1) or the PLP gene at Xq22 (SPG2) that is...

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Identifiers

PMID: 8780101
DOI: 10.1212/wnl.46.4.1112

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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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Refined genetic mapping and proteolipid protein mutation analysis in X-linked pure hereditary spastic paraplegia.PMID 8780101Read ↗

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

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

Fine mapping and genetic heterogeneity in the pure form of autosomal dominant familial spastic paraplegia.Semantic proximity Read ↗

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Clinical observations in autosomal recessive spastic paraplegia in childhood and further evidence for genetic heterogeneity.Semantic proximity Read ↗

Pelizaeus-Merzbacher-like disease: exclusion of the proteolipid protein locus and documentation of a new locus on Xq.Semantic proximity Read ↗

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