Dataset Information

High Prevalence of Dystonia in the Faroe Islands: A Population-Based Study.

ABSTRACT: BACKGROUND:There are fewer than 5 population-based studies of dystonia worldwide. Only one utilized a movement disorders neurologist. Given the potential for founder effects, and the highly genetic nature of dystonia, the Faroe Islands provide a particularly interesting setting to study the prevalence of dystonia. OBJECTIVE:To estimate the prevalence of dystonia. METHODS:We used a 2-phase, population-based design, screening 1,334 randomly selected Faroese individuals aged ?40 years from which a subsample of 227 participated in an in-person clinical evaluation. Dystonia was assessed by 2 movement disorder neurologists using videotaped examinations. RESULTS:Two of 227 (0.88%, 95% CI -0.33 to 2.09%) were diagnosed with cervical or segmental dystonia. An unusual form of thumb flexion dystonia was noted in 75 more, yielding a combined prevalence of 33.92% (95% CI 27.73-40.11%). CONCLUSIONS:The prevalence of cervical or segmental dystonia was as high as in one prior population-based study using similar methods. Furthermore, an unusual form of thumb flexion dystonia was uncovered, which yielded an extraordinarily high prevalence of dystonia in this population. Although our methods likely contributed to more complete capture of subtle dystonia, founder effects are highly likely to have been an additional major contributor to these findings.

SUBMITTER: Louis ED

PROVIDER: S-EPMC6881520 | biostudies-literature | 2019

REPOSITORIES: biostudies-literature

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High Prevalence of Dystonia in the Faroe Islands: A Population-Based Study.

Louis Elan D ED Eliasen Eina H EH Kim Christine Y CY Ferrer Monica M Gaini Shahin S Petersen Maria Skaalum MS

Neuroepidemiology 20190820 3-4

<h4>Background</h4>There are fewer than 5 population-based studies of dystonia worldwide. Only one utilized a movement disorders neurologist. Given the potential for founder effects, and the highly genetic nature of dystonia, the Faroe Islands provide a particularly interesting setting to study the prevalence of dystonia.<h4>Objective</h4>To estimate the prevalence of dystonia.<h4>Methods</h4>We used a 2-phase, population-based design, screening 1,334 randomly selected Faroese individuals aged ≥ ...[more]

PMID: 31430749

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Project description:Over 200 georeferenced registered rephotographic compilations of the Faroe Islands are provided in this dataset. The position of each compilation is georeferenced and thus locatable on a map. Each compilation consists of a historical and a corresponding contemporary image showing the same scene. With steady object features, these two images of the same geolocation are aligned pixel accurately. In the summer of 2022, all contemporary images were photographed by A. Schaffland, while historical images were retrieved from the National Museum of Denmark collections. Images show Faroese landscape and cultural heritage sites, focusing on relevant areas when the historical images were taken, e.g., Kirkjubøur, Tórshavn, and Saksun. Historic images date from the end of the 19th century to the middle of the 20th century. The historical images were taken by scientists, surveyors, archaeologists, and painters. All historical images are in the public domain, have no known rights, or are shared under a CC license. The contemporary images by A. Schaffland are released under CC BY-NC-SA 4.0. The dataset is organized as a GIS project. Historic images, not already georeferenced, were referenced with street view services. All historical images were added to the GIS database, containing camera position, viewing direction, etc. Each compilation can be displayed as an arrow from the camera position along the view direction on a map. Contemporary images were registered to historical images using a specialized tool. None or only a suboptimal rephotograph could be taken for some historical images. These historical images are still added to the database together with all other original images, providing additional data for improvements in rephotography methods in the upcoming years. The resulting image pairs can be used in image registration, landscape change, urban development, and cultural heritage research. Further, the database can be used for public engagement in heritage and as a benchmark for further rephotography and time-series projects.

Project description:BackgroundThe population of the Faroe Islands is an isolated population but very little is known about it from whole genome sequencing. The population of about 50000 people has a high incidence of rare diseases e.g., 1:300 for Primary Carnitine Deficiency. A screening programme was implemented, and eleven persons were also whole genome sequenced at x37 coverage for diagnostic purposes of those cases that were not affected by the known mutations. The purpose of our study is to utilize the high coverage data to explore the genomic variation and the ancestral history of the population. We study the SNP heterozygosity, the pairwise relatedness from kinship, the inbreeding from runs of homozygosity ROH, and we find the minor allele frequency distribution. We estimate the population ancestry and the timing of the founding event by using the whole genomes from eight consenting individuals.ResultsWe find the number of SNPs and the heterozygosity for the eight individual samples, and for merged samples, for which we also study the relatedness. We find close relatedness between the supposedly unrelated individuals. From ROH, we interpret the high relatedness as an ancient property of the isolated population. A bottleneck event is estimated starting between years [Formula: see text] with a maximum consanguineous population in year [Formula: see text] and similarly consanguineous between years [Formula: see text]. The ancestry analysis shows the population descends from founders of [Formula: see text] European and [Formula: see text] Admixed American ancestry. A distinct clustering near the central European and British populations of the 1000 Genome Project is likely the result of the population isolation and genetic drift. The minor allele frequency distribution suggests many rare variants.ConclusionsThe ancestry is mainly European while the inbreeding is higher compared to European populations and population isolates. The Faroese population has inbreeding more like ancient Europeans. We discovered a bottlenecked and consanguineous population event and estimated it starting in the 1st-4th century as compared to the oldest archaeological findings from the 4th-6th century.

Dataset Information

High Prevalence of Dystonia in the Faroe Islands: A Population-Based Study.

Publications

High Prevalence of Dystonia in the Faroe Islands: A Population-Based Study.

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