Article | Published:

A gene for ataxic cerebral palsy maps to chromosome 9p12–q12

European Journal of Human Genetics volume 8, pages 267272 (2000) | Download Citation

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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.

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Affiliations

  1. Pharmacogenetics Unit, Central Research, Pfizer Ltd, Sandwich, Kent, UK

    • DP McHale
  2. Molecular Medicine Unit, University of Leeds, St James's University Hospital, Leeds, UK

    • AP Jackson
    • , CG Woods
    •  & AF Markham
  3. SmithKline Beecham Pharmaceuticals, Harlow, Essex, UK

    • DA Campbell
  4. Yorkshire Regional Genetics Service, St James's University Hospital, Leeds, UK

    • AP Jackson
    • , CG Woods
    •  & RF Mueller
  5. Department of Paediatrics, Leeds General Infirmary, Leeds, UK

    • MI Levene
  6. Child Development Centre, St Luke's Hospital, Bradford, UK

    • P Corry
  7. Oxagen Ltd, Abingdon, Oxfordshire, UK

    • NJ Lench

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Corresponding author

Correspondence to DP McHale.

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DOI

https://doi.org/10.1038/sj.ejhg.5200445

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