| Co-occurrence of restless legs syndrome and Parkin mutations in two families. | |
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MedLine Citation:
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PMID: 16161156 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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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:
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Type: Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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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:
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Created Date: 2006-02-16 Completed Date: 2006-09-25 Revised Date: 2006-11-15 |
Medline Journal Info:
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Nlm Unique ID: 8610688 Medline TA: Mov Disord Country: United States |
Other Details:
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Languages: eng Pagination: 258-63 Citation Subset: IM |
Copyright Information:
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Copyright (c) 2005 Movement Disorder Society. |
Affiliation:
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Department of Neurology, University of Lübeck, Lübeck, Germany. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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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:
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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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