The Danish HD Registry-a nationwide family registry of HD families in Denmark.
The Danish Huntington's Disease Registry (DHR) is a nationwide family registry comprising 14 245 individuals from 445 Huntington's disease (HD) families of which the largest family includes 845 individuals in 8 generations. 1136 DNA and/or blood samples and 18 fibroblast cultures are stored in a local biobank. The birthplace of the oldest HD carrier in each of the 261 families of Danish origin was unevenly distributed across Denmark with a high number of families in the middle part of the peninsula Jutland and in Copenhagen, the capital. The prevalence of HD in Denmark was calculated to be 5-8:100 000. 1451 individuals in the DHR had the size of the HTT CAG repeat determined of which 975 had 36 CAG repeats or more (mean ± SD: 43,5 ± 4,8). Two unrelated individuals were compound heterozygous for alleles ≥36 CAGs, and 60 individuals from 34 independent families carried an intermediate allele.
Department of Neurogenetics, Institute of Cellular and Molecular Medicine, The Panum Institute, University of Copenhagen, Copenhagen, Denmark.|The European Huntington's Disease Network, University of Ulm, Ulm, Germany.
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http://orcid.org/0000-0002-1307-7926
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Gilling
Department of Biostatistics, Institute of Public Health, University of Copenhagen, Copenhagen, Denmark.
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Budtz-Jørgensen
Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark.|Unit of Clinical Genetics, Department of Paediatrics, Zealand University Hospital, Roskilde, Denmark.
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Boonen
Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark.
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Lildballe
Department of Clinical Genetics, Vejle Hospital, Vejle, Denmark.
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Bojesen
Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.
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Hertz
Department of Neurogenetics, Institute of Cellular and Molecular Medicine, The Panum Institute, University of Copenhagen, Copenhagen, Denmark.
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Sørensen
D000367:Age Factors; D000483:Alleles; D018070:Biological Specimen Banks; D003718:Denmark / Q000453:epidemiology; D005190:Family; D005260:Female; D062306:Geography, Medical; D006801:Humans; D000071058:Huntingtin Protein / Q000235:genetics; D006816:Huntington Disease / Q000175:diagnosis / Q000453:epidemiology* / Q000235:genetics; D008297:Male; D012042:Registries; D019680:Trinucleotide Repeat Expansion; D018911:Trinucleotide Repeats
D000071058:Huntingtin Protein
Denmark; HTT CAG repeat; Huntington's disease; family registry