| H00074 | |
| H number | H00074 |
| Name | Canavan disease |
| Description | 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. |
| Category | Inherited metabolic disorder |
| Network | - |
| Gene | ASPA; aspartoacylase [HSA:443] [KO:K01437] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | Disease class: leukodystrophy Affected region: cerebral white matter Microscopic lesion: accumulation of a chemical called N-acetyl-aspartic acid (NAA) and degeneration of myelin |
| Other DBs | ICD-11: 5C50.E1 ICD-10: E75.2 MeSH: D017825 OMIM: 271900 |
| Reference | PMID:19319678 AUTHORS Baslow MH, Guilfoyle DN TITLE Are astrocytes the missing link between lack of brain aspartoacylase activity and the spongiform leukodystrophy in Canavan disease? JOURNAL Neurochem Res 34:1523-34 (2009) DOI:10.1007/s11064-009-9958-z PMID:17391648 AUTHORS Hershfield JR, Pattabiraman N, Madhavarao CN, Namboodiri MA TITLE Mutational analysis of aspartoacylase: implications for Canavan disease. JOURNAL Brain Res 1148:1-14 (2007) DOI:10.1016/j.brainres.2007.02.069 PMID:16807907 AUTHORS Kumar S, Mattan NS, de Vellis J. TITLE Canavan disease: a white matter disorder. JOURNAL Ment Retard Dev Disabil Res Rev 12:157-65 (2006) DOI:10.1002/mrdd.20108 PMID:16647192 AUTHORS Namboodiri AM, Peethambaran A, Mathew R, Sambhu PA, Hershfield J, Moffett JR, Madhavarao CN TITLE Canavan disease and the role of N-acetylaspartate in myelin synthesis. JOURNAL Mol Cell Endocrinol 252:216-23 (2006) DOI:10.1016/j.mce.2006.03.016 PMID:14567959 AUTHORS Surendran S, Michals-Matalon K, Quast MJ, Tyring SK, Wei J, Ezell EL, Matalon R TITLE Canavan disease: a monogenic trait with complex genomic interaction. JOURNAL Mol Genet Metab 80:74-80 (2003) DOI:10.1016/j.ymgme.2003.08.015 PMID:12638939 AUTHORS Zeng BJ, Wang ZH, Ribeiro LA, Leone P, De Gasperi R, Kim SJ, Raghavan S, Ong E, Pastores GM, Kolodny EH TITLE Identification and characterization of novel mutations of the aspartoacylase gene in non-Jewish patients with Canavan disease. JOURNAL J Inherit Metab Dis 25:557-70 (2002) DOI:10.1023/A:1022091223498 PMID:8252036 AUTHORS Kaul R, Gao GP, Balamurugan K, Matalon R TITLE Cloning of the human aspartoacylase cDNA and a common missense mutation in Canavan disease. JOURNAL Nat Genet 5:118-23 (1993) DOI:10.1038/ng1093-118 |