Genomic investigation of α‐synuclein multiplication and parkinsonism

2008339 citationsJournal Articlegreen Open Access

Authors

Owen A. Ross

Adam Braithwaite · Jacksonville College

Lisa Skipper · Jacksonville College

Jennifer M. Kachergus · Mayo Clinic in Florida

Mary Hulihan · Mayo Clinic in Florida

Frank A. Middleton · SUNY Upstate Medical University

Kenya Nishioka · Juntendo University

Abstract

SNCA dosage is responsible for parkinsonism, autonomic dysfunction, and dementia observed within each family. We hypothesize dysregulated expression of wild-type alpha-synuclein results in parkinsonism and may explain the recent association of common SNCA variants in sporadic Parkinson's disease. SNCA genomic duplication results from intraallelic (segmental duplication) or interallelic recombination with unequal crossing over, whereas both mechanisms appear to be required for genomic SNCA triplication.

Topics & Keywords

Genomic variations and chromosomal abnormalities Parkinson's Disease Mechanisms and Treatments Genetics and Neurodevelopmental Disorders

Publication Details

Published in: Annals of Neurology

Volume 63, Issue 6, pp. 743-750

DOI: 10.1002/ana.21380

Field-Weighted Citation Impact: 13.78

Command Palette

Genomic investigation of α‐synuclein multiplication and parkinsonism

Authors

Abstract

Topics & Keywords

Publication Details