Novel mutations in the L1CAM gene support the complexity of L1 syndrome

Cinzia Bertolin, Francesca Boaretto, Giovanni Barbon, Leonardo Salviati, Elisabetta Lapi, Maria Teresa Divizia, Livia Garavelli, Gianluca Occhi, Giovanni Vazza, Maria Luisa Mostacciuolo

Research output: Contribution to journalArticlepeer-review


X-linked hydrocephalus, MASA syndrome, X-linked complicated Spastic Paraplegia Type I and X-linked partial agenesis of the corpus callosum are the four rare diseases usually referred to L1 syndrome, caused by mutations in the L1CAM gene. By direct sequencing of L1CAM in 16 patients, we were able to identify seven mutations, five of which were never described before. Patients' phenotype evaluation revealed a correlation between the number of clinical features typical of L1 syndrome and the chance to find causative mutation. Our findings support that L1CAM mutations are associated with widely heterogeneous phenotypes, however the occurrence of several clinical features remains the best criterion for planning molecular testing both in familial and apparently sporadic cases.

Original languageEnglish
Pages (from-to)124-126
Number of pages3
JournalJournal of the Neurological Sciences
Issue number1-2
Publication statusPublished - Jul 15 2010


  • Hydrocephalus
  • L1CAM gene
  • Mutation screening
  • Spastic paraplegia

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology
  • Medicine(all)

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