| H00074 | |
| H番号 | H00074 |
| 名称 | カナバン病 |
| 概要 | 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. |
| カテゴリ | 先天性代謝異常症 |
| ネットワーク | - |
| 病因遺伝子 | ASPA; aspartoacylase [HSA:443] [KO:K01437] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | Disease class: leukodystrophy Affected region: cerebral white matter Microscopic lesion: accumulation of a chemical called N-acetyl-aspartic acid (NAA) and degeneration of myelin |
| リンク | ICD-11: 5C50.E1 ICD-10: E75.2 MeSH: D017825 OMIM: 271900 |
| 文献 | PMID:19319678 著者 Baslow MH, Guilfoyle DN タイトル Are astrocytes the missing link between lack of brain aspartoacylase activity and the spongiform leukodystrophy in Canavan disease? 雑誌 Neurochem Res 34:1523-34 (2009) DOI:10.1007/s11064-009-9958-z PMID:17391648 著者 Hershfield JR, Pattabiraman N, Madhavarao CN, Namboodiri MA タイトル Mutational analysis of aspartoacylase: implications for Canavan disease. 雑誌 Brain Res 1148:1-14 (2007) DOI:10.1016/j.brainres.2007.02.069 PMID:16807907 著者 Kumar S, Mattan NS, de Vellis J. タイトル Canavan disease: a white matter disorder. 雑誌 Ment Retard Dev Disabil Res Rev 12:157-65 (2006) DOI:10.1002/mrdd.20108 PMID:16647192 著者 Namboodiri AM, Peethambaran A, Mathew R, Sambhu PA, Hershfield J, Moffett JR, Madhavarao CN タイトル Canavan disease and the role of N-acetylaspartate in myelin synthesis. 雑誌 Mol Cell Endocrinol 252:216-23 (2006) DOI:10.1016/j.mce.2006.03.016 PMID:14567959 著者 Surendran S, Michals-Matalon K, Quast MJ, Tyring SK, Wei J, Ezell EL, Matalon R タイトル Canavan disease: a monogenic trait with complex genomic interaction. 雑誌 Mol Genet Metab 80:74-80 (2003) DOI:10.1016/j.ymgme.2003.08.015 PMID:12638939 著者 Zeng BJ, Wang ZH, Ribeiro LA, Leone P, De Gasperi R, Kim SJ, Raghavan S, Ong E, Pastores GM, Kolodny EH タイトル Identification and characterization of novel mutations of the aspartoacylase gene in non-Jewish patients with Canavan disease. 雑誌 J Inherit Metab Dis 25:557-70 (2002) DOI:10.1023/A:1022091223498 PMID:8252036 著者 Kaul R, Gao GP, Balamurugan K, Matalon R タイトル Cloning of the human aspartoacylase cDNA and a common missense mutation in Canavan disease. 雑誌 Nat Genet 5:118-23 (1993) DOI:10.1038/ng1093-118 |