%0 Journal Article %1 McHale2000 %A McHale, D. P. %A Jackson, A. P. %A Campbell, %A Levene, M. I. %A Corry, P. %A Woods, C. G. %A Lench, N. J. %A Mueller, R. F. %A Markham, A. F. %D 2000 %J Eur J Hum Genet %K Alleles; Ataxia; Cerebral Palsy; Child, Preschool; Chromosome Mapping; Chromosomes, Human, Pair 9; DNA; DNA Mutational Analysis; Family Health; Female; Humans; Linkage (Genetics); Lod Score; Male; Microsatellite Repeats; Pedigree %N 4 %P 267--272 %R 10.1038/sj.ejhg.5200445 %T A gene for ataxic cerebral palsy maps to chromosome 9p12-q12. %U http://dx.doi.org/10.1038/sj.ejhg.5200445 %V 8 %X 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.

@article{McHale2000, 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.}, added-at = {2014-07-19T20:46:45.000+0200}, author = {McHale, D. P. and Jackson, A. P. and Campbell and Levene, M. I. and Corry, P. and Woods, C. G. and Lench, N. J. and Mueller, R. F. and Markham, A. F.}, biburl = {https://www.bibsonomy.org/bibtex/239e59648e3ceb484f3474da60d3c53c3/ar0berts}, doi = {10.1038/sj.ejhg.5200445}, groups = {public}, interhash = {dde4c7bdcc868ea6cab0257a876965fe}, intrahash = {39e59648e3ceb484f3474da60d3c53c3}, journal = {Eur J Hum Genet}, keywords = {Alleles; Ataxia; Cerebral Palsy; Child, Preschool; Chromosome Mapping; Chromosomes, Human, Pair 9; DNA; DNA Mutational Analysis; Family Health; Female; Humans; Linkage (Genetics); Lod Score; Male; Microsatellite Repeats; Pedigree}, month = Apr, number = 4, pages = {267--272}, pmid = {10854109}, timestamp = {2014-07-19T20:46:45.000+0200}, title = {A gene for ataxic cerebral palsy maps to chromosome 9p12-q12.}, url = {http://dx.doi.org/10.1038/sj.ejhg.5200445}, username = {ar0berts}, volume = 8, year = 2000 }