| H01287 | |
| H番号 | H01287 |
| 名称 | 先天性鏡像運動症 |
| 概要 | Mirror movements (MRMV) are involuntary movements of one side of the body that mirror intentional movements on the opposite side. While mirror movements are occasionally found in young children, persistence beyond the age of 10 is abnormal. Congenital mirror movements is a rare disorder that is mainly inherited in an autosomal-dominant fashion. Mutations in DCC, the gene encoding receptor for netrin 1 have been identified in MRMV patients. It has also been reported that RAD51 haploinsufficiency causes the heterogeneous MRMV. |
| カテゴリ | 神経系疾患 |
| ネットワーク | - |
| 病因遺伝子 | (MRMV1) DCC [HSA:1630] [KO:K06765] (MRMV2) RAD51A [HSA:5888] [KO:K04482] (MRMV3) DNAL4 [HSA:10126] [KO:K10412] (MRMV4) NTN1 [HSA:9423] [KO:K06843] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 8A07.Y ICD-10: G25.8 OMIM: 157600 614508 616059 618264 |
| 文献 | PMID:20431009 著者 Srour M, Riviere JB, Pham JM, Dube MP, Girard S, Morin S, Dion PA, Asselin G, Rochefort D, Hince P, Diab S, Sharafaddinzadeh N, Chouinard S, Theoret H, Charron F, Rouleau GA タイトル Mutations in DCC cause congenital mirror movements. 雑誌 Science 328:592 (2010) DOI:10.1126/science.1186463 PMID:22305526 著者 Depienne C, Bouteiller D, Meneret A, Billot S, Groppa S, Klebe S, Charbonnier-Beaupel F, Corvol JC, Saraiva JP, Brueggemann N, Bhatia K, Cincotta M, Brochard V, Flamand-Roze C, Carpentier W, Meunier S, Marie Y, Gaussen M, Stevanin G, Wehrle R, Vidailhet M, Klein C, Dusart I, Brice A, Roze E タイトル RAD51 haploinsufficiency causes congenital mirror movements in humans. 雑誌 Am J Hum Genet 90:301-7 (2012) DOI:10.1016/j.ajhg.2011.12.002 PMID:25098561 著者 Ahmed I, Mittal K, Sheikh TI, Vasli N, Rafiq MA, Mikhailov A, Ohadi M, Mahmood H, Rouleau GA, Bhatti A, Ayub M, Srour M, John P, Vincent JB タイトル Identification of a homozygous splice site mutation in the dynein axonemal light chain 4 gene on 22q13.1 in a large consanguineous family from Pakistan with congenital mirror movement disorder. 雑誌 Hum Genet 133:1419-29 (2014) DOI:10.1007/s00439-014-1475-8 PMID:28945198 著者 Meneret A, Franz EA, Trouillard O, Oliver TC, Zagar Y, Robertson SP, Welniarz Q, Gardner RJM, Gallea C, Srour M, Depienne C, Jasoni CL, Dubacq C, Riant F, Lamy JC, Morel MP, Guerois R, Andreani J, Fouquet C, Doulazmi M, Vidailhet M, Rouleau GA, Brice A, Chedotal A, Dusart I, Roze E, Markie D タイトル Mutations in the netrin-1 gene cause congenital mirror movements. 雑誌 J Clin Invest 127:3923-3936 (2017) DOI:10.1172/JCI95442 |