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.
Category
Nervous system disease
Brite
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-based classification of diseases [BR:br08402]
 Cellular process
  nt06541  Cytoskeleton in neurons
   H01097  Spastic quadriplegic cerebral palsy
Network
nt06541 Cytoskeleton in neurons
Gene
(CPSQ1) HPDL [HSA:84842] [KO:K24788]
(CPSQ2) KANK1 [HSA:23189] [KO:K22808]
(CPSQ3) ADD3 [HSA:120] [KO:K18622]
Drug
Dantrolene sodium [DR:D02274]
Other DBs
ICD-11: 8D20.10
MeSH: D002547
OMIM: 619026 612900 617008
Reference
PMID:32707086 (HPDL)
  Authors
Husain RA, Grimmel M, Wagner M, Hennings JC, Marx C, Feichtinger RG, Saadi A, Rostasy K, Radelfahr F, Bevot A, Dobler-Neumann M, Hartmann H, Colleaux L, Cordts I, Kobeleva X, Darvish H, Bakhtiari S, Kruer MC, Besse A, Ng AC, Chiang D, Bolduc F, Tafakhori A, Mane S, Ghasemi Firouzabadi S, Huebner AK, Buchert R, Beck-Woedl S, Muller AJ, Laugwitz L, Nagele T, Wang ZQ, Strom TM, Sturm M, Meitinger T, Klockgether T, Riess O, Klopstock T, Brandl U, Hubner CA, Deschauer M, Mayr JA, Bonnen PE, Krageloh-Mann I, Wortmann SB, Haack TB
  Title
Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic Paraplegia.
  Journal
Am J Hum Genet 107:364-373 (2020)
DOI:10.1016/j.ajhg.2020.06.015
Reference
PMID:16301218 (KANK1)
  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
PMID:23836506 (ADD3)
  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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