Canavan disease - LEUKOTREAT, therapeutic strategies for leukodystrophy affected patients

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04/12/2013

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Last update : 09/02/2015

Canavan disease

Canavan disease is characterized by macrocephaly, lack of head control, and developmental delays by the age of three to five months, severe hypotonia, and failure to achieve independent sitting, ambulation, or speech.

It is caused by mutations in the gene for aspartoacylase (ASPA) which hydrolyzes N-acetyl aspartate (NAA) mainly in oligodendrocytes. Relationship between accumulation of NAA, myelin vacuolation and formation of abnormal astrocytes could be related to the role of NAA in cell signaling within glial cells and neurons.

For detailed information about Canavan disease, read the corresponding review on the NCBI website (National Centre for Biotechnology Information).