Spastic quadriplegic cerebral palsy

Definition:

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.

References:

[1]. Clare N Lynex, et al. 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. BMC Neurol. 2004 Nov 30;4(1):20. [Content Brief]

[2]. Israela Lerer, et al. Deletion of the ANKRD15 gene at 9p24.3 causes parent-of-origin-dependent inheritance of familial cerebral palsy. Hum Mol Genet. 2005 Dec 15;14(24):3911-20. [Content Brief]

[3]. Michael C Kruer, et al. Mutations in γ adducin are associated with inherited cerebral palsy. Ann Neurol. 2013 Dec;74(6):805-14. [Content Brief]

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