Hereditary spastic paraplegia

The L1CAM gene encoding the neural cell adhesion molecule L1 is an adhesion molecule immunoglobulin G superfamily, is expressed in nerve cells, a neuron adhesion and some other important neurons interact with neurons. Jouet , found in the study of HSP-1 the L1CAM gene mutations associated with HSP-1 incidence, mutant forms can be expressed as missense mutations, nonsense mutations and deletion mutations.Addition, L1CAM gene mutations can also cause X-linked MASA syndrome (Mental Retardation, Aphasia Shuffling gait Adducted Thumb Syndrome), X-chain hydrocephalus and X-linked corpus callosum hypoplasia. Therefore, we call these four kinds of disease allele disease. Four kinds of disease the clinical characteristics show considerable overlap in the corpus callosum hypoplasia , mental retardation thumb closing, hereditary spastic paraplegia and hydrocephalus is characterized recently summarized together, these diseases named CRASH syndrome.

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