Quantitative PCR-based screening of alpha-synuclein multiplication in multiple system atrophy.
Multiple system atrophy (MSA) is by nature a 'sporadic' disease with no evidence of familial aggregation observed. However, the alpha-synuclein locus (SNCA) multiplication families have clinically displayed parkinsonism and autonomic dysfunction. The present study did not find any SNCA multiplications in a series of 58 pathologically confirmed MSA cases excluding this event as a common cause of MSA. The question of a genetic component in MSA remains to be answered.
Lincoln
Sarah J
SJ
Department of Neuroscience, Molecular Genetics Laboratory and Core, Morris K. Udall Parkinson's Disease Research Center of Excellence, Mayo Clinic, 4500 San Pablo Road, Jacksonville, FL 32224, USA.
Ross
Owen A
OA
Milkovic
Nicole M
NM
Dickson
Dennis W
DW
Rajput
Alex
A
Robinson
Christopher A
CA
Papapetropoulos
Spiridon
S
Mash
Deborah C
DC
Farrer
Matthew J
MJ
D004252:DNA Mutational Analysis; D005260:Female; D005820:Genetic Testing / Q000379:methods; D006801:Humans; D008297:Male; D019578:Multiple System Atrophy / Q000235:genetics*; D020133:Reverse Transcriptase Polymerase Chain Reaction / Q000379:methods; D051844:alpha-Synuclein / Q000235:genetics*
C497604:SNCA protein, human; D051844:alpha-Synuclein