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Clin Genet. 2017 Sep;92(3):338-341. doi: 10.1111/cge.12984. Epub 2017 Mar 28.

The Danish HD Registry-a nationwide family registry of HD families in Denmark.

Author information

1
Department of Neurogenetics, Institute of Cellular and Molecular Medicine, The Panum Institute, University of Copenhagen, Copenhagen, Denmark.
2
The European Huntington's Disease Network, University of Ulm, Ulm, Germany.
3
Department of Biostatistics, Institute of Public Health, University of Copenhagen, Copenhagen, Denmark.
4
Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark.
5
Unit of Clinical Genetics, Department of Paediatrics, Zealand University Hospital, Roskilde, Denmark.
6
Department of Clinical Genetics, Vejle Hospital, Vejle, Denmark.
7
Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.

Abstract

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.

KEYWORDS:

Denmark; HTT CAG repeat; Huntington's disease; family registry

PMID:
28155235
DOI:
10.1111/cge.12984
[Indexed for MEDLINE]

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