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Article

Abnormal corticospinal function but normal axonal guidance in human L1CAM mutations.

Brain : a journal of neurology - 1 Dec 2001

Dobson C B, Villagra F, Clowry G J, Smith M, Kenwrick S, Donnai D, Miller S, Eyre J A

Abstract excerpt

L1 cell adhesion molecule (L1CAM) gene mutations are associated with X-linked 'recessive' neurological syndromes characterized by spasticity of the legs. L1CAM knock-out mice show hypoplasia of the corticospinal tract and failure of corticospinal axonal decussation and projection beyond the cervical spinal cord. The aim of this study was to determine if similar neuropathology underlies the spastic diplegia of...

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Identifiers

PMID: 11701594
DOI: 10.1093/brain/124.12.2393

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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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