Clinical and genetic description of a family with a high prevalence of autosomal dominant restless legs syndrome

Jessica E. Young, Carles Vilariño-Güell, Siong Chi Lin, Zbigniew K Wszolek, Matthew J. Farrer

Research output: Contribution to journalArticle

16 Citations (Scopus)

Abstract

OBJECTIVE: To 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 METHODS: From 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. RESULTS: The 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. CONCLUSION: Of 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.

Original languageEnglish (US)
Pages (from-to)134-138
Number of pages5
JournalMayo Clinic Proceedings
Volume84
Issue number2
DOIs
StatePublished - 2009

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Restless Legs Syndrome
Pedigree
Molecular Biology
Interviews
Genes
Essential Tremor
Restless legs syndrome 2
Mutation
Genetic Loci
Parkinson Disease

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Clinical and genetic description of a family with a high prevalence of autosomal dominant restless legs syndrome. / Young, Jessica E.; Vilariño-Güell, Carles; Lin, Siong Chi; Wszolek, Zbigniew K; Farrer, Matthew J.

In: Mayo Clinic Proceedings, Vol. 84, No. 2, 2009, p. 134-138.

Research output: Contribution to journalArticle

Young, Jessica E. ; Vilariño-Güell, Carles ; Lin, Siong Chi ; Wszolek, Zbigniew K ; Farrer, Matthew J. / Clinical and genetic description of a family with a high prevalence of autosomal dominant restless legs syndrome. In: Mayo Clinic Proceedings. 2009 ; Vol. 84, No. 2. pp. 134-138.
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