Role of parkin mutations in 111 community-based patients with early-onset parkinsonism.
Early-onset parkinsonism is frequently reported in connection with mutations in the parkin gene. In this study, we present the results of extensive genetic screening for parkin mutations in 111 community-derived early-onset parkinsonism patients (age of onset <50 years) from Germany with an overall mutation rate of 9.0%. Gene dosage alterations represented 67% of the mutations found, underlining the importance of quantitative analyses of parkin. In summary, parkin mutations accounted for a low but significant percentage of early-onset parkinsonism patients in a community-derived sample.
Kann
Martin
M
Department of Neurology, Medical University of Lübeck, Lübeck, Germany.
Jacobs
Helfried
H
Mohrmann
Kathrin
K
Schumacher
Kirsten
K
Hedrich
Katja
K
Garrels
Jennifer
J
Wiegers
Karin
K
Schwinger
Eberhard
E
Pramstaller
Peter P
PP
Breakefield
Xandra O
XO
Ozelius
Laurie J
LJ
Vieregge
Peter
P
Klein
Christine
C
D000328:Adult; D017668:Age of Onset; D005091:Exons / Q000235:genetics; D005260:Female; D006801:Humans; D008025:Ligases / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D020734:Parkinsonian Disorders / Q000235:genetics*; D012111:Residence Characteristics / Q000706:statistics & numerical data; D044767:Ubiquitin-Protein Ligases
D044767:Ubiquitin-Protein Ligases; C111567:parkin protein; D008025:Ligases