| H01757 | |
| H番号 | H01757 |
| 名称 | 禿頭と変形性脊椎症を伴う常染色体劣性白質脳症 |
| 概要 | Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) is a very rare autosomal recessive vascular disorder characterized by nonhypertensive cerebral small-vessel disease with early adulthood onset subcortical infarcts, progressive motor and cognitive impairment, alopecia, and spondylosis. Until recently, this disorder was almost exclusively reported in the Asian population. It has been found that CARASIL is associated with mutations in the HTRA1 gene encoding HtrA serine protease 1. |
| カテゴリ | 先天奇形 |
| ネットワーク | - |
| 病因遺伝子 | HTRA1 [HSA:5654] [KO:K08784] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 8B22.C1 ICD-10: F01.1 MeSH: C563990 OMIM: 600142 |
| 文献 | PMID:25712943 著者 Menezes Cordeiro I, Nzwalo H, Sa F, Ferreira RB, Alonso I, Afonso L, Basilio C タイトル Shifting the CARASIL paradigm: report of a non-Asian family and literature review. 雑誌 Stroke 46:1110-2 (2015) DOI:10.1161/STROKEAHA.114.006735 PMID:22900900 著者 Wang XL, Li CF, Guo HW, Cao BZ タイトル A novel mutation in the HTRA1 gene identified in Chinese CARASIL pedigree. 雑誌 CNS Neurosci Ther 18:867-9 (2012) DOI:10.1111/j.1755-5949.2012.00373.x |