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

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

Back to search

Article

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

American journal of human genetics - 1 Jun 1995

Jouet M, Moncla A, Paterson J, McKeown C, Fryer A, Carpenter N, Holmberg E, Wadelius C, Kenwrick S

Abstract excerpt

The neural cell-adhesion molecule L1 is involved in intercellular recognition and neuronal migration in the CNS. Recently, we have shown that mutations in the gene encoding L1 are responsible for three related disorders; X-linked hydrocephalus, MASA (mental retardation, aphasia, shuffling gait, and adducted thumbs) syndrome, and spastic paraplegia type I (SPG1). These three disorders represent a clinical spectrum...

Topics

Abnormalities, Multiple
Base Sequence
Cell Adhesion Molecules, Neuronal
Conserved Sequence
Female
Fibronectins
Genetic Linkage
Genetic Testing
Humans
Hydrocephalus
Leukocyte L1 Antigen Complex

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Male

Models, Molecular

Molecular Sequence Data

Mutation

Pedigree

Protein Conformation

Sequence Analysis, DNA

Source

Open in PubMed Open full text

Identifiers

PMID: 7762552
PMCID: PMC1801103

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7762552-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

New domains of neural cell-adhesion molecule L1 implicated in X-linked hydrocephalus and MASA syndrome.PMID 7762552Read ↗

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

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

X linked hydrocephalus and MASA syndrome.Semantic proximity Read ↗

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

Gene analysis of L1 neural cell adhesion molecule in prenatal diagnosis of hydrocephalus.Semantic proximity Read ↗

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

L1-associated diseases: clinical geneticists divide, molecular geneticists unite.Semantic proximity Read ↗

A new mutation of the L1CAM gene in an X-linked hydrocephalus family.Semantic proximity Read ↗

Molecular mechanisms and neuroimaging criteria for severe L1 syndrome with X-linked hydrocephalus.Semantic proximity Read ↗

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

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

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

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