Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene.

Nature genetics - 1 Jul 1994

Jouet M, Rosenthal A, Armstrong G, MacFarlane J, Stevenson R, Paterson J, Metzenberg A, Ionasescu V, Temple K, Kenwrick S

Abstract excerpt

X-linked hydrocephalus, spastic paraplegia type I and MASA syndrome are related disorders with loci in subchromosomal region Xq28. We have previously shown that X-linked hydrocephalus is caused by mutations in the gene for neural cell adhesion molecule L1 (L1CAM), an axonal glycoprotein involved in neuronal migration and differentiation. Here we report mutations of the L1 gene in MASA syndrome and SPG1, in...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Base Sequence
Share to Cell Movement

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Chromosome Mapping

Share to DNA Mutational Analysis

Share to Models, Molecular

Share to Molecular Sequence Data

Share to Neurons

Source

Identifiers

PMID: 7920659
DOI: 10.1038/ng0794-402

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.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene.PMID 7920659Read ↗

Genetic and clinical aspects of X-linked hydrocephalus (L1 disease): Mutations in the L1CAM gene.Semantic proximity Read ↗

New domains of neural cell-adhesion molecule L1 implicated in X-linked hydrocephalus and MASA syndrome.Semantic proximity Read ↗

X linked hydrocephalus and MASA syndrome.Semantic proximity Read ↗

A novel L1CAM mutation with L1 spectrum disorders.Semantic proximity Read ↗

A New Splicing Mutation in the L1CAM Gene Responsible for X-Linked Hydrocephalus (HSAS).Semantic proximity Read ↗

Nine novel L1 CAM mutations in families with X-linked hydrocephalus.Semantic proximity Read ↗

L1CAM mutation in a Japanese family with X-linked hydrocephalus: a study for genetic counseling.Semantic proximity Read ↗

CRASH syndrome: clinical spectrum of corpus callosum hypoplasia, retardation, adducted thumbs, spastic paraparesis and hydrocephalus due to mutations in one single gene, L1.Semantic proximity Read ↗

Five novel mutations in the L1CAM gene in families with X linked hydrocephalus.Semantic proximity Read ↗

The clinical spectrum of mutations in L1, a neuronal cell adhesion molecule.Semantic proximity Read ↗

Hydrocephalus and Hirschsprung's disease in a patient with a mutation of L1CAM.Semantic proximity Read ↗

Novel mutations in the L1CAM gene support the complexity of L1 syndrome.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.