A gene for autosomal recessive symmetrical spastic cerebral palsy maps to chromosome 2q24-25

Cerebral palsy has an incidence of similar to 1/500 births, although this v aries between different ethnic groups. Genetic forms of the disease account for similar to 1%-2% of cases in most countries but contribute a larger pr oportion in populations with extensive inbreeding. We have clinically chara cterized consanguineous families with multiple children affected by symmetr ical spastic cerebral palsy, to locate recessive genes responsible for this condition. The eight families studied were identified from databases of pa tients in different regions of the United Kingdom. After ascertainment and clinical assessment, we performed a genomewide search for linkage, using 29 0 polymorphic DNA markers. In three families, a region of homozygosity at c hromosome 2q24-q25 was identified between the markers D2S124 and D2S148. Th e largest family gave a maximum LOD score of 3.0, by multipoint analysis (H OMOZ). The maximum combined multipoint LOD score for the three families was 5.75. The minimum region of homozygosity is similar to 5 cM between the ma rkers D2S124 and D2S2284. We have shown that a proportion of autosomal rece ssive symmetrical spastic cerebral palsy maps to chromosome 2q24-25. The id entification of genes involved in the etiology of cerebral palsy may lead t o improved management of this clinically intractable condition.