Canavan Disease: Studies on the Knockout Mouse

  • Reuben Matalon
  • Kimberlee Michals-Matalon
  • Sankar Surendran
  • Stephen K. Tyring
Conference paper

DOI: 10.1007/0-387-30172-0_6

Part of the Advances in Experimental Medicine and Biology book series (volume 576)
Cite this paper as:
Matalon R., Michals-Matalon K., Surendran S., Tyring S.K. (2006) Canavan Disease: Studies on the Knockout Mouse. In: Moffett J.R., Tieman S.B., Weinberger D.R., Coyle J.T., Namboodiri A.M.A. (eds) N-Acetylaspartate. Advances in Experimental Medicine and Biology, vol 576. Springer, Boston, MA

1. Abstract

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 expression of multiple genes in addition to ASPA deficiency. Adenoassociated virus mediated gene transfer and stem cell therapy in the knockout mouse are the latest attempts to alter pathophysiology in the CD mouse.

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Copyright information

© Springer Science+Business Media, Inc. 2006

Authors and Affiliations

  • Reuben Matalon
    • 2
  • Kimberlee Michals-Matalon
    • 2
  • Sankar Surendran
    • 2
  • Stephen K. Tyring
    • 2
    • 3
  1. 1.Pediatrics, Childrens HospitalUTMBGalveston
  2. 2.Department of PediatricsUniversity of Texas Medical BranchGalveston
  3. 3.Department of DermatologyUniversity of Texas Health Science CenterHouston

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