CRASH syndrome: Clinical spectrum of Corpus callosum hypoplasia, Retardation, Adducted thumbs, Spastic paraparesis and Hydrocephalus due to mutations in one single gene, L1

E. Fransen, V. Lemmon, G. Van Camp, L. Vits, P. Coucke, P. J. Willems

Research output: Contribution to journalReview article

176 Scopus citations

Abstract

L1 is a neuronal cell adhesion molecule with important functions in the development of the nervous system. The gene encoding L1 is located near the telomere of the long arm of the X chromosome in Xq28. We review here the evidence that several X-linked mental retardation syndromes including X-linked hydrocephalus (HSAS), MASA syndrome, X-linked complicated spastic paraparesis (SP1) and X-linked corpus callosum agenesis (ACC) are all due to mutations in the L1 gene. The inter- and intrafamilial variability in families with an L1 mutation is very wide, and patients with HSAS, MASA, SP1 and ACC can be present within the same family. Therefore, we propose here to refer to this clinical syndrome with the acronym CRASH, for Corpus callosum hypoplasia, Retardation, Adducted thumbs, Spastic paraplegia and Hydrocephalus.

Original languageEnglish (US)
Pages (from-to)273-284
Number of pages12
JournalEuropean Journal of Human Genetics
Volume3
Issue number5
DOIs
StatePublished - 1995

Keywords

  • Adducted thumbs
  • Corpus callosum agenesis
  • CRASH
  • Hydrocephalus
  • L1
  • MASA syndrome
  • Mental retardation
  • Mutation analysis
  • Spastic paraplegia
  • X-linked disorder

ASJC Scopus subject areas

  • Genetics(clinical)

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