title: A gene for autosomal recessive symmetrical spastic cerebral palsy maps to chromosome 2q24-25.
abstract: Cerebral palsy has an incidence of approximately 1/500 births, although this varies between different ethnic groups. Genetic forms of the disease account for approximately 1%-2% of cases in most countries but contribute a larger proportion in populations with extensive inbreeding. We have clinically characterized consanguineous families with multiple children affected by symmetrical spastic cerebral palsy, to locate recessive genes responsible for this condition. The eight families studied were identified from databases of patients in different regions of the United Kingdom. After ascertainment and clinical assessment, we performed a genomewide search for linkage, using 290 polymorphic DNA markers. In three families, a region of homozygosity at chromosome 2q24-q25 was identified between the markers D2S124 and D2S148. The largest family gave a maximum LOD score of 3.0, by multipoint analysis (HOMOZ). The maximum combined multipoint LOD score for the three families was 5.75. The minimum region of homozygosity is approximately 5 cM between the markers D2S124 and D2S2284. We have shown that a proportion of autosomal recessive symmetrical spastic cerebral palsy maps to chromosome 2q24-25. The identification of genes involved in the etiology of cerebral palsy may lead to improved management of this clinically intractable condition.
authors.affiliation: Molecular Medicine Unit Clinical Sciences Building, St. James's University Hospital, Leeds, LS9 7TF United Kingdom. mrpdpm@leeds.ac.uk
authors.forename: D P
authors.initials: DP
authors.lastname: McHale
authors.forename: S
authors.initials: S
authors.lastname: Mitchell
authors.forename: S
authors.initials: S
authors.lastname: Bundey
authors.forename: L
authors.initials: L
authors.lastname: Moynihan
authors.forename: D A
authors.initials: DA
authors.lastname: Campbell
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: D000293:Adolescent; D000328:Adult; D002547:Cerebral Palsy / Q000235:genetics*; D002648:Child; D002874:Chromosome Mapping; D002889:Chromosomes, Human, Pair 2; D005260:Female; D005808:Genes, Recessive; D005838:Genotype; D006801:Humans; D008297:Male; D010375:Pedigree; D010641:Phenotype