| H01097 | |
| H number | H01097 |
| Name | Spastic quadriplegic cerebral palsy |
| Description | 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. |
| Category | Nervous system disease |
| Network | - |
| Gene | (CPSQ1) GAD1 [HSA:2571] [KO:K01580] (CPSQ2) KANK1 [HSA:23189] [KO:K22808] (CPSQ3) ADD3 [HSA:120] [KO:K18622] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | Dantrolene sodium [DR:D02274] |
| Comment | - |
| Other DBs | ICD-11: 8D20.10 ICD-10: G80.9 MeSH: D002547 OMIM: 603513 612900 617008 |
| Reference | PMID:15571623 AUTHORS Lynex CN, Carr IM, Leek JP, Achuthan R, Mitchell S, Maher ER, Woods CG, Bonthon DT, Markham AF TITLE 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. JOURNAL BMC Neurol 4:20 (2004) DOI:10.1186/1471-2377-4-20 PMID:16301218 AUTHORS Lerer I, Sagi M, Meiner V, Cohen T, Zlotogora J, Abeliovich D TITLE Deletion of the ANKRD15 gene at 9p24.3 causes parent-of-origin-dependent inheritance of familial cerebral palsy. JOURNAL Hum Mol Genet 14:3911-20 (2005) DOI:10.1093/hmg/ddi415 PMID:23836506 AUTHORS 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 TITLE Mutations in gamma adducin are associated with inherited cerebral palsy. JOURNAL Ann Neurol 74:805-14 (2013) DOI:10.1002/ana.23971 |