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Canavan disease

What are the causes?

The white matter of the brain, otherwise known as myelin sheath, is a fatty covering which acts as an insulator around the nerve fibres of the brain. Myelin sheath is made up of a number of different chemicals. Canavan disease is caused by a deficiency of the normal turnover of a chemical in the brain that is required for normal white matter integrity. Canavan disease is caused by changes (or mutations) in the ASPA gene on chromosome 17. This gene is expressed in supporting cells (oligodendrocytes) involved in the formation of the myelin sheath. The disrupted formation of myelin results in white matter that is fragile and the nerve fibres loose their essential function later in development. There are different types of Canavan disease which include congenital, infantile, and late-onset forms.

View Background Background  |  What are the symptoms? View What are the symptoms?

Medical text written April 2002 by Contact a Family. Approved April 2002 by Professor T Cox. Last updated March 2007 by Professor T Cox, Professor of Medicine, University of Cambridge School of Clinical Medicine, Cambridge, UK.

 

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