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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