ArticleMayo Clinic proceedings2009
Clinical and genetic description of a family with a high prevalence of autosomal dominant restless legs syndrome.
Article in Mayo Clinic proceedings, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed, 19 citations in OpenAlex.
- Restless Legs Syndrome: Contemporary Diagnosis and Treatment.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2021Review
- Article
- Linking restless legs syndrome with Parkinson's disease: clinical, imaging and genetic evidence.Translational neurodegeneration · 2012Article
- A family with Parkinsonism, essential tremor, restless legs syndrome, and depression.Neurology · 2011Article
- Restless legs syndrome and Parkinson's disease in men.Movement disorders : official journal of the Movement Disorder Society · 2010Article
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
Abstract
objectiveTo conduct clinical and molecular genetic analyses of the members of an extended family in Central Indiana with a high prevalence of restless legs syndrome (RLS). PARTICIPANTS AND
methodsFrom February 1, 2006, through August 31, 2008, we collected data from members of this family, which is of English descent. Genealogical methods were used to expand the family tree, and family members were screened with an RLS questionnaire. Telephone interviews and personal examinations were performed at Mayo Clinic and during a field trip to Central Indiana. Blood samples were collected for molecular genetic analysis. A follow-up telephone interview was conducted 1 year later.
resultsThe family tree spans 7 generations with 88 living members, 30 of whom meet the criteria for diagnosis of RLS established by the International Restless Legs Syndrome Study Group. Three affected family members also have Parkinson disease or essential tremor. The mode of RLS inheritance is compatible with an autosomal dominant pattern. The affected family members do not exhibit linkage to the 5 known RLS loci or mutations in the RLS susceptibility genes MEIS1 and BTBD9.
conclusionOf 88 members of this single extended family in Central Indiana, 30 were diagnosed as having RLS. Because our analysis shows that the disease is not linked to any of the known RLS loci or risk-associated genes, we postulate that members of this family may carry a gene mutation in a novel genetic locus.
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