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Am J Med Genet. 2002 Jul 8;114(5):584-91.

Complex relationship between Parkin mutations and Parkinson disease.

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1
Familial Movement Disorders, Laboratories of Neurogenetics, Department of Neuroscience, Mayo Clinic, Jacksonville, Florida 32224, USA.

Erratum in

  • Am J Med Genet 2002 Dec 8;114(8):992.

Abstract

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.

PMID:
12116199
DOI:
10.1002/ajmg.10525
[Indexed for MEDLINE]
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