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Complex relationship between Parkin mutations and Parkinson disease.

Publication ,  Journal Article
West, A; Periquet, M; Lincoln, S; Lücking, CB; Nicholl, D; Bonifati, V; Rawal, N; Gasser, T; Lohmann, E; Deleuze, J-F; Maraganore, D; Levey, A ...
Published in: Am J Med Genet
July 8, 2002

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 re-evaluate 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 haplo-insufficiency may be sufficient for disease in some cases.

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Published In

Am J Med Genet

DOI

ISSN

0148-7299

Publication Date

July 8, 2002

Volume

114

Issue

5

Start / End Page

584 / 591

Location

United States

Related Subject Headings

  • Ubiquitin-Protein Ligases
  • Sequence Deletion
  • Review Literature as Topic
  • Promoter Regions, Genetic
  • Polymorphism, Single Nucleotide
  • Parkinson Disease
  • Mutation
  • Middle Aged
  • Male
  • Ligases
 

Citation

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West, A., Periquet, M., Lincoln, S., Lücking, C. B., Nicholl, D., Bonifati, V., … French Parkinson’s Disease Genetics Study Group and the European Consortium on Genetic Susceptibility on Parkinson’s Disease, . (2002). Complex relationship between Parkin mutations and Parkinson disease. Am J Med Genet, 114(5), 584–591. https://doi.org/10.1002/ajmg.10525
West, Andrew, Magali Periquet, Sarah Lincoln, Christoph B. Lücking, David Nicholl, Vincenzo Bonifati, Nina Rawal, et al. “Complex relationship between Parkin mutations and Parkinson disease.Am J Med Genet 114, no. 5 (July 8, 2002): 584–91. https://doi.org/10.1002/ajmg.10525.
West A, Periquet M, Lincoln S, Lücking CB, Nicholl D, Bonifati V, et al. Complex relationship between Parkin mutations and Parkinson disease. Am J Med Genet. 2002 Jul 8;114(5):584–91.
West, Andrew, et al. “Complex relationship between Parkin mutations and Parkinson disease.Am J Med Genet, vol. 114, no. 5, July 2002, pp. 584–91. Pubmed, doi:10.1002/ajmg.10525.
West A, Periquet M, Lincoln S, Lücking CB, Nicholl D, Bonifati V, Rawal N, Gasser T, Lohmann E, Deleuze J-F, Maraganore D, Levey A, Wood N, Dürr A, Hardy J, Brice A, Farrer M, French Parkinson’s Disease Genetics Study Group and the European Consortium on Genetic Susceptibility on Parkinson’s Disease. Complex relationship between Parkin mutations and Parkinson disease. Am J Med Genet. 2002 Jul 8;114(5):584–591.

Published In

Am J Med Genet

DOI

ISSN

0148-7299

Publication Date

July 8, 2002

Volume

114

Issue

5

Start / End Page

584 / 591

Location

United States

Related Subject Headings

  • Ubiquitin-Protein Ligases
  • Sequence Deletion
  • Review Literature as Topic
  • Promoter Regions, Genetic
  • Polymorphism, Single Nucleotide
  • Parkinson Disease
  • Mutation
  • Middle Aged
  • Male
  • Ligases