Canavan disease

Definition:

Canavan disease (CD) is an autosomal recessive neurodegenerative disorder associated with mutations of the gene encoding aspartoacylase (ASPA). In humans, the CD syndrome is marked by early onset, hydrocephalus, macroencephaly, psychomotor retardation, and spongiform myelin sheath vacuolization with progressive leukodystrophy. The disease is caused by aspartoacylase deficiency resulting in accumulation of N-acetylaspartic acid (NAA) in the brain. The increased levels of NAA in CD lead to swelling or sponginess of the brain. Two mutations account for about 98% of the alleles of Ashkenazi Jewish patients, in which population the disease is highly prevalent(E285A and Y231X in ASPA protein). Mutations in the ASPA gene in non-Jewish patients are different and more diverse.

References:

[1]. Aryan M A Namboodiri, et al. Canavan disease and the role of N-acetylaspartate in myelin synthesis. Mol Cell Endocrinol. 2006 Jun 27;252(1-2):216-23. [Content Brief]

[2]. B J Zeng, et al. Identification and characterization of novel mutations of the aspartoacylase gene in non-Jewish patients with Canavan disease. J Inherit Metab Dis. 2002 Nov;25(7):557-70. [Content Brief]

[3]. Jeremy R Hershfield, et al. Mutational analysis of aspartoacylase: implications for Canavan disease. Brain Res. 2007 May 7;1148:1-14. [Content Brief]

[4]. Morris H Baslow, et al. Are astrocytes the missing link between lack of brain aspartoacylase activity and the spongiform leukodystrophy in Canavan disease?. Neurochem Res. 2009 Sep;34(9):1523-34. [Content Brief]

[5]. R Kaul, et al. Cloning of the human aspartoacylase cDNA and a common missense mutation in Canavan disease. Nat Genet. 1993 Oct;5(2):118-23. [Content Brief]

[6]. Sankar Surendran, et al. Canavan disease: a monogenic trait with complex genomic interaction. Mol Genet Metab. 2003 Sep-Oct;80(1-2):74-80. [Content Brief]

[7]. Shalini Kumar, et al. Canavan disease: a white matter disorder. Ment Retard Dev Disabil Res Rev. 2006;12(2):157-65. [Content Brief]

Biomedical Dictionary

The Biomedical Dictionary is a comprehensive and professional collection of biological academic terms and subject datas. All explanations are supported by authoritative books or high impact factor literatures, and you can acquire accurate explanations of the biomedical terms you want to know.

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z #

Name
Email *

	Sorry, but the email address you supplied was invalid.