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:

[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]

Biomedical Dictionary

The Biomedical Dictionary is a comprehensive and professional collection of biological academic terms and subject datas. All explanations are supported by authoritative books or high impact factor literatures, and you can acquire accurate explanations of the biomedical terms you want to know.

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z #

Name
Email *

	Sorry, but the email address you supplied was invalid.