Complex relationship between parkin mutations and Parkinson disease

A West, M Periquet, S Lincoln, CB Lucking, David Nicholl, V Bonifati, N Rawal, T Gasser, E Lohmann, JF Deleuze, D Maraganore, A Levey, N Wood, A Durr, J Hardy, Anne Brice, M Farrer, French Parkinson’s Disease Genetics Study Group, European Consortium on Genetic Susceptibility on Parkinson’s Disease

Research output: Contribution to journalArticle

179 Citations (Scopus)


Mutations in the Parkin gene cause juvenile and early onset Parkinsonism. While Parkin-related disease is presumed to be an autosomal-recessive disorder, cases have been reported where only a single Parkin allele is mutated and raise the possibility of a dominant effect. In this report, we reevaluate twenty heterozygous cases and extend the mutation screening to include the promoter and intron/exon boundaries. Novel deletion, point and intronic splice site mutations are described, along with promoter variation. These data, coupled with a complete review of published Parkin mutations, confirms that not only is recessive loss of Parkin a risk factor for juvenile and early onset Parkinsonism but that Parkin haploinsufficiency may be sufficient for disease in some cases. (C) 2002 Wiley-Liss, Inc.
Original languageEnglish
Pages (from-to)584-591
Number of pages8
JournalAmerican Journal of Medical Genetics. Part A
Issue number5
Early online date11 Jun 2002
Publication statusPublished - 1 Jul 2002


  • haplo-insufficiency
  • Parkinson disease
  • neurodegeneration
  • Parkin


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