KEGG   DISEASE: Spastic quadriplegic cerebral palsy
Entry
H01097                      Disease                                

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
Brite
Human diseases [BR:br08402]
 Nervous system diseases
  Other nervous and sensory system diseases
   H01097  Spastic quadriplegic cerebral palsy
Human diseases in ICD-11 classification [BR:br08403]
 08 Diseases of the nervous system
  Cerebral palsy
   8D20  Spastic cerebral palsy
    H01097  Spastic quadriplegic cerebral palsy
Pathway
hsa04727  GABAergic synapse
Gene
(CPSQ1) GAD1 [HSA:2571] [KO:K01580]
(CPSQ2) KANK1 [HSA:23189] [KO:K22808]
(CPSQ3) ADD3 [HSA:120] [KO:K18622]
Drug
Dantrolene sodium [DR:D02274]
Other DBs
ICD-11: 8D20.10
ICD-10: G80.9
MeSH: D002547
OMIM: 603513 612900 617008
Reference
  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
Reference
  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
Reference
  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
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