title: A gene for ataxic cerebral palsy maps to chromosome 9p12-q12.
abstract: Cerebral palsy (CP) has an incidence of approximately 1 in 750 births, although this varies between ethnic groups. Genetic forms of the disease account for about 2% of cases in most countries, but contribute a larger proportion in certain sub-types of the condition and in populations with a large proportion of consanguineous marriages. Ataxic cerebral palsy accounts for 5-10% of all forms of CP and it is estimated that approximately 50% of ataxic cerebral palsy is inherited as an autosomal recessive trait. We have identified a complex consanguineous Asian pedigree with four children in two sibships affected with ataxic cerebral palsy and have used homozygosity mapping to map the disorder in this family. A genome-wide search was performed using 343 fluorescently labelled polymorphic markers and linkage to chromosome 9p12-q12 was demonstrated. A maximum Lod score of 3.4 was observed between the markers D9S50 and D9S167 using multipoint analysis, a region of approximately 23cM. We have identified a family that segregates both ataxic CP and ataxic diplegia and have mapped the genetic locus responsible in this family to chromosome 9p12-q12. The identification of gene(s) involved in the aetiology of CP will offer the possibility of prenatal/premarital testing to some families with children affected with the disorder and will greatly increase our understanding of the development of the control of motor function.
authors.affiliation: Pharmacogenetics Unit, Central Research, Pfizer Ltd, Sandwich, Kent, UK. Duncan-Mchale@sandwich.pfizer.com
authors.forename: D P
authors.initials: DP
authors.lastname: McHale
authors.forename: A P
authors.initials: AP
authors.lastname: Jackson
authors.lastname: Campbell
authors.forename: M I
authors.initials: MI
authors.lastname: Levene
authors.forename: P
authors.initials: P
authors.lastname: Corry
authors.forename: C G
authors.initials: CG
authors.lastname: Woods
authors.forename: N J
authors.initials: NJ
authors.lastname: Lench
authors.forename: R F
authors.initials: RF
authors.lastname: Mueller
authors.forename: A F
authors.initials: AF
authors.lastname: Markham
mesh_terms: D000483:Alleles; D001259:Ataxia / Q000473:pathology*; D002547:Cerebral Palsy / Q000235:genetics* / Q000473:pathology; D002675:Child, Preschool; D002874:Chromosome Mapping; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics*; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D008126:Lod Score; D008297:Male; D018895:Microsatellite Repeats; D010375:Pedigree
chemical_list: D004247:DNA