Send to:

Choose Destination
See comment in PubMed Commons below
Neurosci Lett. 2005 Jun 3;380(3):257-9. Epub 2005 Feb 8.

Homozygous partial genomic triplication of the parkin gene in early-onset parkinsonism.

Author information

  • 1Laboratory of Neurogenetics, Department of Neuroscience, Birdsall Bldg., Room 206, Mayo Clinic, Jacksonville, FL 32224, USA.


Autosomal recessive mutations in the parkin gene are the predominant cause of familial, early-onset parkinsonism; missense mutations involving one or a few nucleotides, exonic deletions and duplications have been described. Here we report a family with two affected brothers. Direct sequencing of parkin did not detect mutations, but semi-quantitative analysis identified a novel exonic rearrangement of exons 2-4. Both patients were homozygous for unique genomic triplications of the parkin gene.

[PubMed - indexed for MEDLINE]
PubMed Commons home

PubMed Commons

How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for Elsevier Science
    Loading ...
    Write to the Help Desk