| H01038 | |
| H番号 | H01038 |
| 名称 | Cayman型小脳性運動失調症 |
| 概要 | Cerebellar ataxia cayman type (ATCAY) is an autosomal recessive disorder characterized by hypotonia, mental retardation, and cerebellar dysfunction with marked cerebellar hypoplasia. It has been reported that mutation of the ATCAY gene encoding Caytaxin causes ATCAY by interfering with normal splicing. |
| カテゴリ | 神経系疾患 |
| ネットワーク | - |
| 病因遺伝子 | ATCAY [HSA:85300] [KO:K18450] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 8A03.1Y ICD-10: G11.0 MeSH: C563363 OMIM: 601238 |
| 文献 | PMID:17157273 著者 Hayakawa Y, Itoh M, Yamada A, Mitsuda T, Nakagawa T タイトル Expression and localization of Cayman ataxia-related protein, Caytaxin, is regulated in a developmental- and spatial-dependent manner. 雑誌 Brain Res 1129:100-9 (2007) DOI:10.1016/j.brainres.2006.10.068 |