期刊
MOVEMENT DISORDERS
卷 25, 期 11, 页码 1715-1722出版社
WILEY
DOI: 10.1002/mds.23248
关键词
restless legs syndrome; RLS; genetics; linkage mapping; RLS-5
资金
- Erasmus MC Rotterdam, The Netherlands
- Netherlands Organization for Scientific Research (NWO)
- Erasmus MC Rotterdam
- Internationaal Parkinson Fonds (The Netherlands)
- NIH-NINDS
- NWO/Center for Medical Systems Biology (CMSB)
- NWO/Center for Biomedical Genetics (CBG)
- European Union
Six chromosomal loci have been mapped for restless legs syndrome (RLS) through family-based linkage analysis (RLS-1 to RLS-6), but confirmation has met with limited success, and causative mutations have not yet been identified. We ascertained a large multigenerational Dutch family with RLS of early onset (average 18 years-old). The clinical study included a follow-up of 2 years. To map the underlying genetic defect, we performed a genome-wide scan for linkage using high-density SNP microarrays. A single, strong linkage peak was detected on chromosome 20p13, p under an autosomal-dominant model, in the region of the RLS-5 locus (maximum multipoint LOD score 3.02). Haplotype analysis refined the RLS-5 critical region from 5.2 to 4.5 megabases. In conclusion, we provide the first confirmation of the RLS-5 locus, and we reduce its critical region. The identification of the underlying mutation might reveal an important susceptibility gene for this common movement disorder. (C) 2010 Movement Disorder Society
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