Authors
Christoph B Lücking, Alexandra Dürr, Vincenzo Bonifati, Jenny Vaughan, Giuseppe De Michele, Thomas Gasser, Biswadjiet S Harhangi, Giuseppe Meco, Patrice Denèfle, Nicholas W Wood, Yves Agid, D Nicholl, MMB Breteler, BA Oostra, M De Mari, R Marconi, A Filla, A-M Bonnet, E Broussolle, P Pollak, O Rascol, M Rosier, Arnould Arnould, Alexis Brice
Publication date
2000/5/25
Journal
New England Journal of Medicine
Volume
342
Issue
21
Pages
1560-1567
Publisher
Massachusetts Medical Society
Description
Background
Mutations in the parkin gene have recently been identified in patients with early-onset Parkinson's disease, but the frequency of the mutations and the associated phenotype have not been assessed in a large series of patients.
Methods
We studied 73 families in which at least one of the affected family members was affected at or before the age of 45 years and had parents who were not affected, as well as 100 patients with isolated Parkinson's disease that began at or before the age of 45 years. All subjects were screened for mutations in the parkin gene with use of a semiquantitative polymerase-chain-reaction assay that simultaneously amplified several exons. We sequenced the coding exons in a subgroup of patients. We also compared the clinical features of patients with parkin mutations and those without mutations.
Results
Among the families with early-onset Parkinson's disease, 36 (49 percent …
Total citations
Scholar articles
CB Lücking, A Dürr, V Bonifati, J Vaughan… - New England Journal of Medicine, 2000
CB Lücking, A Dürr, V Bonifati, J Vaughan… - N Engl J Med, 2000
DA LückingCB - N Engl J Med, 2000