KEGG   DISEASE: H01097Help
Entry
H01097                      Disease                                

Name
Cerebral palsy
Description
Cerebral palsy 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 four subunits of the adaptor protein complex-4 (AP-4).
Category
Nervous system disease
BRITE hierarchy
Pathway
Alanine, aspartate and glutamate metabolism
beta-Alanine metabolism
Taurine and hypotaurine metabolism
Butanoate metabolism
GABAergic synapse
Lysosome
Gene
GAD1 [HSA:2571] [KO:K01580]
KANK1 [HSA:23189]
AP4E1 [HSA:9179] [KO:K12402]
AP4M1 [HSA:23431] [KO:K12400]
AP4B1 [HSA:10717] [KO:K12401]
AP4S1 [HSA:11154] [KO:K12403]
Other DBs
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)
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)
Reference
  Authors
Moreno-De-Luca A, Helmers SL, Mao H, Burns TG, Melton AM, Schmidt KR, Fernhoff PM, Ledbetter DH, Martin CL
  Title
Adaptor protein complex-4 (AP-4) deficiency causes a novel autosomal recessive cerebral palsy syndrome with microcephaly and intellectual disability.
  Journal
J Med Genet 48:141-4 (2011)

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