α-Synuclein gene rearrangements in dominantly inherited parkinsonism: frequency, phenotype, and mechanisms

P Ibáñez, S Lesage, S Janin, E Lohmann… - Archives of …, 2009 - jamanetwork.com
Objective Genomic multiplications of the α-synuclein gene (SNCA) cause autosomal
dominant Parkinson disease (ADPD). The aim of this study was to assess the frequency and
phenotype ofSNCArearrangements in a large series of families with typical or atypical AD
parkinsonism. Design Patients were screened by the exon dosage of theSNCAgene. The
genotype of patients and relatives carryingSNCArearrangements, the size of the multiplied
regions, and the centromeric and telomeric breakpoints were determined by microsatellite …