Eye movement disorders are different in Parkin-linked and idiopathic early-onset PD.
OBJECTIVE
Parkin gene mutations are the most common cause of early-onset parkinsonism. Patients with Parkin mutations may be clinically indistinguishable from patients with idiopathic early-onset Parkinson disease (EOPD) without Parkin mutations. Eye movement disorders have been shown to differentiate parkinsonian syndromes, but have never been systematically studied in Parkin mutation carriers.


METHODS
Eye movements were recorded in symptomatic (n = 9) and asymptomatic Parkin mutation carriers (n = 13), patients with idiopathic EOPD (n = 14), and age-matched control subjects (n = 27) during established oculomotor tasks.


RESULTS
Both patients with EOPD and symptomatic Parkin mutation carriers showed hypometric prosaccades toward visual stimuli, as well as deficits in suppressing reflexive saccades toward unintended targets (antisaccade task). When directing gaze toward memorized target positions, patients with EOPD exhibited hypometric saccades, whereas symptomatic Parkin mutation carriers showed normal saccades. In contrast to patients with EOPD, the symptomatic Parkin mutation carriers showed impaired tracking of a moving target (reduced smooth pursuit gain). The asymptomatic Parkin mutation carriers did not differ from healthy control subjects in any of the tasks.


CONCLUSIONS
Although clinically similarly affected, symptomatic Parkin mutation carriers and patients with idiopathic EOPD differed in several oculomotor tasks. This finding may point to distinct anatomic structures underlying either condition: dysfunctions of cortical areas involved in smooth pursuit (V5, frontal eye field) in Parkin-linked parkinsonism vs greater impairment of basal ganglia circuits in idiopathic Parkinson disease.
Machner
B
B
Department of Neurology, University of Lübeck, Lübeck, Germany. Bjoern.Machner@neuro.uni-luebeck.de
Klein
C
C
Sprenger
A
A
Baumbach
P
P
Pramstaller
P P
PP
Helmchen
C
C
Heide
W
W
D000328:Adult; D017668:Age of Onset; D000704:Analysis of Variance; D053483:Eye Movement Measurements; D005133:Eye Movements / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008875:Middle Aged; D015835:Ocular Motility Disorders / Q000150:complications* / Q000235:genetics* / Q000503:physiopathology; D010300:Parkinson Disease / Q000150:complications* / Q000235:genetics* / Q000503:physiopathology; D012720:Severity of Illness Index; D044767:Ubiquitin-Protein Ligases / Q000235:genetics*
D044767:Ubiquitin-Protein Ligases; C111567:parkin protein