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X-linked hydrocephalus (XLH), MASA syndrome and certain forms of X-linked spastic paraplegia (SPG1) and Xlinked agenesis of corpus callosum (ACC) are now known to be due to mutations in the gene for the neural cell adhesion molecule L1CAM and reclassified as human L1 syndrome. The purpose of this study was to perform the nation-wide mutation research of L1 gene in Japan and evaluate the clinical futures. We defined the criteria for L1 CAM gene mutation analysis in two categories. The first was the patients with hydrocephalus with X-linked inheritance, and the second included the sporadic cases with clinical and neuro-radiological characteristics of XLH or MASA syndrome.

Neuroradiological criteria of human L1CAM syndrome – report of 24 human L1CAM mutations including 17 noble mutations and clinical evaluation