title: Clinical and genetic analysis of a large Dutch family with autosomal dominant vascular retinopathy, migraine and Raynaud's phenomenon.
abstract: 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.
authors.affiliation: Department of Neurology, Leiden University Medical Centre, The Netherlands.
authors.forename: G M
authors.initials: GM
authors.lastname: Terwindt
authors.forename: J
authors.initials: J
authors.lastname: Haan
authors.forename: R A
authors.initials: RA
authors.lastname: Ophoff
authors.forename: S M
authors.initials: SM
authors.lastname: Groenen
authors.forename: C W
authors.initials: CW
authors.lastname: Storimans
authors.forename: J B
authors.initials: JB
authors.lastname: Lanser
authors.forename: R A
authors.initials: RA
authors.lastname: Roos
authors.forename: E M
authors.initials: EM
authors.lastname: Bleeker-Wagemakers
authors.forename: R R
authors.initials: RR
authors.lastname: Frants
authors.forename: M D
authors.initials: MD
authors.lastname: Ferrari
mesh_terms: D000293:Adolescent; D000328:Adult; D005260:Female; D005451:Fluorescein Angiography; D005799:Genes, Dominant; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008568:Memory / Q000502:physiology; D008875:Middle Aged; D008881:Migraine Disorders / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology*; D009483:Neuropsychological Tests; D010375:Pedigree; D011928:Raynaud Disease / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology*; D012164:Retinal Diseases / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology; D012171:Retinal Vessels / Q000473:pathology