Blink amplitude but not saccadic hypometria indicates carriers of Parkin mutations.
We investigated saccades, eyelid blinks, and their interaction in symptomatic (n = 22) and asymptomatic (n = 31) subjects with (n = 19) and without (n = 34) Parkin mutations. Saccadic hypometria was correlated with clinical symptoms of Parkinson's disease, irrespective of mutational status. By contrast, blink amplitude was increased in carriers of Parkin mutations independent of their clinical status. Saccade main sequence and blink effects on saccades were normal. We propose that increased blink amplitude may serve as an endophenotype in carriers of Parkin mutations.
Helmchen
C
C
Department of Neurology, University of Lübeck, Ratzeburger Allee 160, 23538 Lübeck, Germany. christoph.helmchen@neuro.uni-luebeck.de
Schwekendiek
A
A
Pramstaller
P P
PP
Hedrich
K
K
Klein
C
C
Rambold
H
H
D000328:Adult; D001767:Blinking; D005133:Eye Movements; D005143:Eyelids; D005260:Female; D006580:Genetic Carrier Screening / Q000379:methods*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010300:Parkinson Disease / Q000175:diagnosis / Q000235:genetics*; D010641:Phenotype; D012438:Saccades; D044767:Ubiquitin-Protein Ligases / Q000235:genetics*
D044767:Ubiquitin-Protein Ligases; C111567:parkin protein