CRASH syndrome: Mutations in L1CAM correlate with severity of the disease

M. Yamasaki, P. Thompson, V. Lemmon

Research output: Contribution to journalArticlepeer-review

122 Scopus citations


X-linked hydrocephalus, MASA syndrome and certain forms of X-linked spastic paraplegia and agenesis of corpus callosum are now known to be due to mutations in the gene for the neural cell adhesion molecule L1 (19, 30). As a result, these syndromes have recently been reclassified as CRASH syndrome, an acronym for Corpus callosum hypoplasia, Retardation, Adducted thumbs, Spasticity and Hydrocephalus (8). A comparison of existing case reports with molecular genetic analysis reveals a striking correlation between the type of mutation in the L1CAM gene and the severity of the disease. Mutations that produce truncations in the extracellular domain of the L1 protein are more likely to produce severe hydrocephalus, grave mental retardation or early death than point mutations in the extracellular domain or mutations affecting only the cytoplasmic domain of the protein. While less severe than extracellular truncations, point mutations in the extracellular domain do produce more severe neurologic problems than mutations in just the cytoplasmic domain.

Original languageEnglish (US)
Pages (from-to)175-178
Number of pages4
Issue number3
StatePublished - Jun 1997
Externally publishedYes


  • L1CAM
  • MASA syndrome
  • X-linked hydrocephalus

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Clinical Neurology


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