Abstract
Abstract Mutations in the L1 cell adhesion molecule (L1CAM) gene encoding for the neural (L1) cell adhesion molecule L1CAM, located at Xq28, result in a varying clinical spectrum. Manifestations range from lethal congenital hydrocephalus in males (X-linked hydrocephalus or hereditary stenosis of the aquaductus of Sylvius [HSAS], OMIM 307000) to mild to moderate mental retardation combined with spastic paraplegia (with or without hydrocephalus on brain imaging): MASA syndrome (mental retardation, aphasia or slow speech development, shufMing gait or spastic paraplegia, and adducted thumbs; OMIM 303350) (Schrander-Stumpel and Vos, 2006). X-linked spastic paraplegia (SPG1, OMIM 312900) is included in the spectrum, as is “L1 syndrome” (OMIM 308840), which includes the X-linked agenesis of the corpus callosum and mental retardation with clasped thumb.
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