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Familial vestibulocerebellar disorder maps to chromosome 13q31-q33: a new nystagmus locus
  1. N K Ragge1,
  2. C Hartley2,
  3. A M Dearlove2,
  4. J Walker3,
  5. I Russell-Eggitt3,
  6. C M Harris4
  1. 1Department of Ophthalmology, St Thomas’ Hospital, London and Moorfields Eye Hospital, London, UK
  2. 2Medical Research Council HGMP Resource Centre, Cambridge, UK
  3. 3Department of Ophthalmology, Great Ormond St Hospital for Children, London, UK
  4. 4Plymouth Institute of Neuroscience, Plymouth University, Plymouth, UK
  1. Correspondence to:
 Miss N K Ragge, Department of Ophthalmology, St Thomas’ Hospital, Lambeth Palace Road, London SE1 7EH, UK; 


Purpose: To determine a gene locus for a family with a dominantly inherited vestibulocerebellar disorder characterised by early onset, but not congenital nystagmus.

Design: Observational and experimental study.

Methods: We carried out a phenotypic study of a unique four generation family with nystagmus. We performed genetic linkage studies including a genome wide search.

Results: Affected family members developed vestibulocerebellar type nystagmus in the first two years of life. A higher incidence of strabismus was noted in affected members. Haplotype construction and analysis of recombination events linked the disorder to a locus (NYS4) on chromosome 13q31-q33 with a lod score of 6.322 at θ=0 for D13S159 and narrowed the region to a 13.8 cM region between markers D13S1300 and D13S158.

Conclusions: This study suggests that the early onset acquired nystagmus seen in this family is caused by a single gene defect. Identification of the gene may hold the key to understanding pathways for early eye stabilisation and strabismus.

  • nystagmus
  • familial
  • gene
  • NYS4

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