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.
%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
}