Canavan disease: studies on the knockout mouse.
@article{Matalon2006CanavanDS, title={Canavan disease: studies on the knockout mouse.}, author={Reuben Matalon and Kimberlee Michals‐Matalon and Sankar Surendran and Stephen K. Tyring}, journal={Advances in experimental medicine and biology}, year={2006}, volume={576}, pages={ 77-93; discussion 361-3 } }
Canavan disease (CD) is an autosomal recessive disorder, characterized by spongy degeneration of the brain. Patients with CD have aspartoacylase (ASPA) deficiency, which results accumulation of N-acetylaspartic acid (NAA) in the brain and elevated excretion of urinary NAA. Clinically, patients with CD have macrocephaly, mental retardation and hypotonia. A knockout mouse for CD which was engineered, also has ASPA deficiency and elevated NAA. Molecular studies of the mouse brain showed abnormal…
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