title: Co-occurrence of restless legs syndrome and Parkin mutations in two families.
abstract: 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.affiliation: Department of Neurology, University of Lübeck, Lübeck, Germany.
authors.forename: Susanna
authors.initials: S
authors.lastname: Adel
authors.forename: Ana
authors.initials: A
authors.lastname: Djarmati
authors.forename: Kemal
authors.initials: K
authors.lastname: Kabakci
authors.forename: Irene
authors.initials: I
authors.lastname: Pichler
authors.forename: Cordula
authors.initials: C
authors.lastname: Eskelson
authors.forename: Thora
authors.initials: T
authors.lastname: Lohnau
authors.forename: Norman
authors.initials: N
authors.lastname: Kock
authors.forename: Johann
authors.initials: J
authors.lastname: Hagenah
authors.forename: Katja
authors.initials: K
authors.lastname: Hedrich
authors.forename: Eberhard
authors.initials: E
authors.lastname: Schwinger
authors.forename: Patricia L
authors.initials: PL
authors.lastname: Kramer
authors.forename: Peter P
authors.initials: PP
authors.lastname: Pramstaller
authors.forename: Christine
authors.initials: C
authors.lastname: Klein
mesh_terms: D000328:Adult; D000368:Aged; D002869:Chromosome Aberrations; D002874:Chromosome Mapping; D015897:Comorbidity; D004252:DNA Mutational Analysis; D018450:Disease Progression; D005260:Female; D018628:Gene Dosage; D005799:Genes, Dominant; D006801:Humans; D008126:Lod Score; D008297:Male; D018895:Microsatellite Repeats / Q000235:genetics; D008875:Middle Aged; D009460:Neurologic Examination; D010300:Parkinson Disease / Q000175:diagnosis / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D018807:Polymorphism, Single-Stranded Conformational; D012148:Restless Legs Syndrome / Q000175:diagnosis / Q000235:genetics*; D044767:Ubiquitin-Protein Ligases / Q000235:genetics*
chemical_list: D044767:Ubiquitin-Protein Ligases; C111567:parkin protein