Cerebral palsy (CP) is defined as a nonprogressive but not unchanging disorder of posture or movement, caused by an abnormality of the brain and first evident at the stage of rapid brain development (Hughes and Newton, 1992). The ... Cerebral palsy (CP) is defined as a nonprogressive but not unchanging disorder of posture or movement, caused by an abnormality of the brain and first evident at the stage of rapid brain development (Hughes and Newton, 1992). The most common forms result from factors surrounding difficulties before or at birth, such as severe perinatal asphyxia, congenital infection, prematurity, and multiple pregnancy (Blair and Stanley, 1988; Stanley, 1994). More rarely, familial clustering or absence of pre- or postpartum events indicate that there are genetic forms of the disorder (Lynex et al., 2004). Cerebral palsy can be classified according to the type of movement disorder: spastic cerebral palsy accounts for approximately 60% of cases and can be subdivided into hemiplegic, diplegic, quadriplegic, and monoplegic types, whereas other forms include athetoid/dyskinetic, ataxic (605388), and mixed (Gustavson et al., 1969). - Genetic Heterogeneity of Spastic Quadriplegic Cerebral Palsy See also CPSQ2 (612900), caused by deletion of the ANKRD15 gene (KANK1; 607704) inherited on the paternal allele. Related phenotypes that were formerly classified in the CPSQ series include spastic paraplegia-47 (SPG47; 614066), spastic paraplegia-50 (SPG50; 612936), spastic paraplegia-51 (SPG51; 613744), and spastic paraplegia-52 (614067).
Mitchell and Bundey (1997) and McHale et al. (1999) reported a consanguineous family of Pakistani origin in which 4 sibs had spastic cerebral palsy with onset in infancy. All had moderate to severe mental retardation. All had spasticity ... Mitchell and Bundey (1997) and McHale et al. (1999) reported a consanguineous family of Pakistani origin in which 4 sibs had spastic cerebral palsy with onset in infancy. All had moderate to severe mental retardation. All had spasticity affecting predominantly the lower limbs, although 2 also had mild hypertonia and ataxia of the upper limbs. Spastic features included hypertonicity, hyperreflexia, and extensor plantar responses. Two older sibs had contractures. One patient had bilateral dislocated hips and another had microcephaly and scoliosis. Cranial nerve abnormalities, nystagmus, and seizures were not present.
In 4 affected sibs of a consanguineous Pakistani family with autosomal recessive spastic cerebral palsy reported by Mitchell and Bundey (1997), Lynex et al. (2004) identified a homozygous mutation in the GAD1 gene (605363.0001).
The common forms of cerebral palsy have an incidence of 1 in 250 to 1,000 births (Pharoah et al., 1987; Bundey and Alam, 1993). However, approximately 2% of all CP cases in Swedish and English children are believed ... The common forms of cerebral palsy have an incidence of 1 in 250 to 1,000 births (Pharoah et al., 1987; Bundey and Alam, 1993). However, approximately 2% of all CP cases in Swedish and English children are believed to be due to a genetic cause because most of these cases have no recognizable adverse pre- or postpartum events (Gustavson et al., 1969; Bundey and Griffiths, 1977).