L1 syndrome
Definition:
L1 syndrome comprises a wide variety of X-linked inherited neurodevelopmental disorders caused by mutations in the L1CAM gene, including X-linked hydrocephalus, MASA syndrome (mental retardation, aphasia, spastic paraplegia, adducted thumbs), X-linked complicated hereditary spastic paraplegia type 1, and X-linked partial agenesis of corpus callosum. L1CAM encodes for the L1 cell adhesion molecule (L1-CAM), a member of the immunoglobulin (Ig) superfamily of neural cell adhesion molecules that is expressed in the developing nervous system.
References:
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[1]. Cinzia Bertolin, et al. Novel mutations in the L1CAM gene support the complexity of L1 syndrome. J Neurol Sci. 2010 Jul 15;294(1-2):124-6. [Content Brief]
[2]. S Weller, et al. Genetic and clinical aspects of X-linked hydrocephalus (L1 disease): Mutations in the L1CAM gene. Hum Mutat. 2001;18(1):1-12. [Content Brief]
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