Document Detail


Co-occurrence of restless legs syndrome and Parkin mutations in two families.
MedLine Citation:
PMID:  16161156     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Recent studies have suggested an association between restless legs syndrome (RLS) and Parkinson's disease (PD). We present a large multigenerational family and a smaller family with RLS. A Parkin mutation was found in 10 of 20 patients from both families with idiopathic RLS but was not considered causative. The clinical phenotype did not differ between RLS patients with and without a Parkin mutation. Inheritance of RLS was consistent with autosomal dominant transmission, and linkage analysis excluded all three known loci for RLS.
Authors:
Susanna Adel; Ana Djarmati; Kemal Kabakci; Irene Pichler; Cordula Eskelson; Thora Lohnau; Norman Kock; Johann Hagenah; Katja Hedrich; Eberhard Schwinger; Patricia L Kramer; Peter P Pramstaller; Christine Klein
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Movement disorders : official journal of the Movement Disorder Society     Volume:  21     ISSN:  0885-3185     ISO Abbreviation:  Mov. Disord.     Publication Date:  2006 Feb 
Date Detail:
Created Date:  2006-02-16     Completed Date:  2006-09-25     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  8610688     Medline TA:  Mov Disord     Country:  United States    
Other Details:
Languages:  eng     Pagination:  258-63     Citation Subset:  IM    
Copyright Information:
Copyright (c) 2005 Movement Disorder Society.
Affiliation:
Department of Neurology, University of Lübeck, Lübeck, Germany.
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MeSH Terms
Descriptor/Qualifier:
Adult
Aged
Chromosome Aberrations
Chromosome Mapping
Comorbidity
DNA Mutational Analysis*
Disease Progression
Female
Gene Dosage
Genes, Dominant
Humans
Lod Score
Male
Microsatellite Repeats / genetics
Middle Aged
Neurologic Examination
Parkinson Disease / diagnosis,  genetics*
Pedigree
Phenotype
Polymorphism, Single-Stranded Conformational
Restless Legs Syndrome / diagnosis,  genetics*
Ubiquitin-Protein Ligases / genetics*
Chemical
Reg. No./Substance:
EC 6.3.2.19/Ubiquitin-Protein Ligases; EC 6.3.2.19/parkin protein

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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