| H01097 | |
| H番号 | H01097 |
| 名称 | 痙攣性四肢脳性麻痺 |
| 概要 | Spastic quadriplegic cerebral palsy (CPSQ) is a heterogeneous group of neurodevelopmental brain disorders resulting in motor and posture impairments often associated with cognitive, sensorial, and behavioural disturbances. It is thought that a half of idiopathic cerebral palsy cases are caused by genetic factors, such as mutations in GAD1, KANK1, and ADD3. |
| カテゴリ | 神経系疾患 |
| ネットワーク | - |
| 病因遺伝子 | (CPSQ1) GAD1 [HSA:2571] [KO:K01580] (CPSQ2) KANK1 [HSA:23189] [KO:K22808] (CPSQ3) ADD3 [HSA:120] [KO:K18622] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 8D20.10 ICD-10: G80.9 MeSH: D002547 OMIM: 603513 612900 617008 |
| 文献 | PMID:15571623 著者 Lynex CN, Carr IM, Leek JP, Achuthan R, Mitchell S, Maher ER, Woods CG, Bonthon DT, Markham AF タイトル Homozygosity for a missense mutation in the 67 kDa isoform of glutamate decarboxylase in a family with autosomal recessive spastic cerebral palsy: parallels with Stiff-Person Syndrome and other movement disorders. 雑誌 BMC Neurol 4:20 (2004) DOI:10.1186/1471-2377-4-20 PMID:16301218 著者 Lerer I, Sagi M, Meiner V, Cohen T, Zlotogora J, Abeliovich D タイトル Deletion of the ANKRD15 gene at 9p24.3 causes parent-of-origin-dependent inheritance of familial cerebral palsy. 雑誌 Hum Mol Genet 14:3911-20 (2005) DOI:10.1093/hmg/ddi415 PMID:23836506 著者 Kruer MC, Jepperson T, Dutta S, Steiner RD, Cottenie E, Sanford L, Merkens M, Russman BS, Blasco PA, Fan G, Pollock J, Green S, Woltjer RL, Mooney C, Kretzschmar D, Paisan-Ruiz C, Houlden H タイトル Mutations in gamma adducin are associated with inherited cerebral palsy. 雑誌 Ann Neurol 74:805-14 (2013) DOI:10.1002/ana.23971 |