Co-occurrence of restless legs syndrome and Parkin mutations in two families.
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.
Adel
Susanna
S
Department of Neurology, University of Lübeck, Lübeck, Germany.
Djarmati
Ana
A
Kabakci
Kemal
K
Pichler
Irene
I
Eskelson
Cordula
C
Lohnau
Thora
T
Kock
Norman
N
Hagenah
Johann
J
Hedrich
Katja
K
Schwinger
Eberhard
E
Kramer
Patricia L
PL
Pramstaller
Peter P
PP
Klein
Christine
C
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*
D044767:Ubiquitin-Protein Ligases; C111567:parkin protein