title: An epidemiological study of Wilson's disease in the Republic of Ireland.
abstract: In a population based study of the prevalence of Wilson's disease in the Republic of Ireland from 1970-89, 26 definite and probable cases were ascertained. The adjusted birth incidence rate was 17.0 per million live births (95% (confidence interval 9.9 to 27.2)) for the 20 year period 1950-69. The gene frequency was 0.41% (95% (confidence interval 0.31% to 0.52%) indicating that one in 122 of the population was a gene carrier. Allowing for a maximal degree of consanguinity, the gene frequency is reduced to 0.36% and the proportion of heterozygotes to one in 139 of the population. The consistency of the adjusted birth incidence rates over the decades 1950-59 and 1960-69 suggests a high degree of ascertainment of diagnosed cases of Wilson's disease.
authors.affiliation: Department of Neurology, St Vincent's and Adelaide Hospitals, Dublin, Republic of Ireland.
authors.forename: M
authors.initials: M
authors.lastname: Reilly
authors.forename: L
authors.initials: L
authors.lastname: Daly
authors.forename: M
authors.initials: M
authors.lastname: Hutchinson
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D003241:Consanguinity; D003430:Cross-Sectional Studies; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D006580:Genetic Carrier Screening; D006527:Hepatolenticular Degeneration / Q000453:epidemiology* / Q000235:genetics; D006801:Humans; D015994:Incidence; D007494:Ireland / Q000453:epidemiology; D008297:Male; D008875:Middle Aged