Double homozygous mutations (R275W and M432V) in the ParkinGene associated with late-onset Parkinson's disease

Mov Disord. 2016 Mar;31(3):423-5. doi: 10.1002/mds.26524. Epub 2016 Feb 10.

Authors

Jonathan Carr¹, Ilaria Guella², Chelsea Szu-Tu², Sihaam Boolay³, Brigitte Glanzmann³, Matthew J Farrer², Soraya Bardien³

Affiliations

¹ Division of Neurology, Faculty of Medicine and Health Sciences, Stellenbosch University, Cape Town, South Africa.
² Centre for Applied Neurogenetics, Djavad Mowafhagian Centre for Brain Health, Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.
³ Division of Molecular Biology and Human Genetics, Faculty of Medicine and Health Sciences, Stellenbosch University, Cape Town, South Africa.

PMID: 26860075
DOI: 10.1002/mds.26524

No abstract available

Publication types

Case Reports
Letter
Research Support, Non-U.S. Gov't

MeSH terms

Aged
Female
Genetic Predisposition to Disease*
Homozygote
Humans
Late Onset Disorders / genetics*
Male
Middle Aged
Mutation / genetics*
Parkinson Disease / genetics*
Pedigree
Ubiquitin-Protein Ligases / genetics*

Substances

Ubiquitin-Protein Ligases
parkin protein