Brain, Vol 121, Issue 2 303-316, Copyright © 1998 by Oxford University Press
GM Terwindt, J Haan, RA Ophoff, SM Groenen, CW Storimans, JB Lanser, RA Roos, EM Bleeker-Wagemakers, RR Frants and MD Ferrari
We describe an extended Dutch family with a new hereditary disorder:
autosomal dominant vascular retinopathy, migraine and Raynaud's phenomenon.
Information was obtained on 289 family members (151 males, 138 females), of
whom 198 were personally interviewed. Retinopathy was found in 20 (6.9%) of
the family members, migraine in 65 (22.5%) and Raynaud's phenomenon in 50
(17.3%). A combination of all three symptoms was found in 11 subjects. In a
genetic linkage analysis we firstly excluded several candidate loci.
Subsequently, 75% of the autosomal genome was excluded in a genome-wide
search. The following conclusions were drawn. First, genetic factors are
involved in Raynaud's phenomenon. Secondly, the genetic linkage of migraine
with vascular retinopathy and Raynaud's phenomenon supports a vascular
aetiology of this disorder. Finding the gene for this family may help to
elucidate the genetic background of migraine and of vascular disorders in
general.
ARTICLES
Clinical and genetic analysis of a large Dutch family with autosomal dominant vascular retinopathy, migraine and Raynaud's phenomenon
Department of Neurology, Leiden University Medical Centre, The Netherlands.
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