Estimated Frequency of Genetic and Nongenetic Causes of Congenital Idiopathic Cerebral Palsy in West Sweden

Abstract

SummaryMathematical analysis of prenatal and perinatal risk factors was performed on the first 681 published cases of idiopathic congenital cerebral palsy (born 1959-1970) in the west Swedish population-based cerebral palsy (CP) study. Analysis indicates that an estimated 40% of etiologically undiagnosed cases of CP in the community (48% of those born at term and 24% of those born prematurely) are genetically caused. These proportions of genetic causation are no less in CP than in idiopathic mental retardation. Genetic causes account for 60% of maturely born hemiplegics, 45% of maturely born spastic diplegics, 32% of premature spastic diplegics and virtually all cases of pure ataxia. About 23% of CP cases in the community have suffered nongenetic brain damage in accordance with the two-stage model. The residue of 37% is characterized by a single risk factor, usually perinatal.

The origins of cerebral palsy

“…In an elegant mathematical analysis of data from the Swedish registry [34 ] for infants born between 1959 and 1970, Costeff estimated that 40% of cases of CP had a genetic basis (48% of term and 24% of preterm cases). Genetic factors were implicated in 60% of term hemiplegia, 45% of term spastic diplegia, virtually all cases of pure ataxia and 32% of preterm spastic diplegia.…”

Methylenetetrahydrofolate reductase gene polymorphisms and cerebral palsy in Chinese infants

“…6 A mounting body of recent evidence points to genetic influences on the occurrence of CP. This evidence includes familial data, 7 twin studies 8 and specific genetic factors, [9][10][11][12] and indicate that CP may be related to genomic factors, as well as to environmental incursions during brain development.…”

Asociaciones genéticas en la parálisis cerebral; un campo aún en estudio

“…44 Muchos estudios en los últimos 20 años y soportados por el grupo de la Dra. Novak en Australia [22][23][24][25][26][27][28][29][30][31][32][33] confirman que el 20-25% de casos de parálisis cerebral moderada o severa se asocian con malformación congénitas del sistema nervioso central. Toda esta profundización de la etiología de la parálisis cerebral sugiere que el desarrollo temprano de anomalías juega un papel importante y significativo en la etiología de la parálisis cerebral.…”

“…En los últimos años con los avances en genética y epigenética; se han evidenciado factores que pueden contribuir al riesgo de PC, sugerido por el aumento de esta en grupos con consaguinidad alta, y riesgo familiar 33,34 con genes candidatos que puede predisponer a parto pretérmino 35 . El 1-2% de las PC (La gran mayoría de origen familiar), han sido ligadas a mutaciones genéticas 20,36 .…”