Mutations in L1-CAM in two families with X linked complicated spastic paraplegia, MASA syndrome, and HSAS.

doi:10.1136/jmg.32.7.549

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Article

Mutations in L1-CAM in two families with X linked complicated spastic paraplegia, MASA syndrome, and HSAS.

Journal of medical genetics - 1 Jul 1995

Ruiz J C, Cuppens H, Legius E, Fryns J P, Glover T, Marynen P, Cassiman J J

Abstract excerpt

The suggestion that the three X linked syndromes X linked spastic paraplegia (MIM 312900), MASA syndrome (MIM 303350), and X linked hydrocephalus owing to stenosis of the aqueduct of Sylvius (MIM 307000) are variable clinical manifestations of mutations at the same locus at Xq28 was confirmed by the finding of mutations in the L1-CAM gene in the three syndromes. Recently, two families in which different subjects...

Topics

Base Sequence
Cell Line
Cerebral Aqueduct
DNA Mutational Analysis
Female
Humans
Hydrocephalus
Leukocyte L1 Antigen Complex
Male
Molecular Sequence Data
Neural Cell Adhesion Molecules

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Paraplegia

Pedigree

Phenotype

Point Mutation

Polymerase Chain Reaction

Sequence Deletion

Syndrome

Source

Open in PubMed Open full text

Identifiers

PMID: 7562969
DOI: 10.1136/jmg.32.7.549
PMCID: PMC1050549

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7562969-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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