Oculomotor defects in patients with Huntington's disease and their offspring.
We recorded saccadic, pursuit and fixation eye movements in patients (n = 5) with moderately advanced Huntington's disease (HD), offspring of HD patients (n = 22) and control subjects (n = 15), using the scleral sensor coil technique. Saccadic slowing was seen in all patients, no controls and (marginally) in a few at-risk subjects. Fixational stability was lower in patients than in the other groups; a structured background enhanced the difference and revealed decreased stability in a number of at-risk subjects. Smooth pursuit showed large errors in most patients and several controls but none of the at-risk subjects. Sporadic follow-up data show that at least two of the at-risk subjects developed manifest HD within a few years after passing the oculomotor test with entirely normal results. The material as a whole suggests that oculomotor dysfunction does not develop prior to, but concurrently with and as a part of generalized, progressive deterioration of motor control. The implication is that oculomotor screening of clinically healthy at-risk subjects does not reliably contribute to an earlier diagnosis of future HD.
Collewijn
H
H
Department of Physiology, I. Faculty of Medicine, Erasmus University, Rotterdam, The Netherlands.
Went
L N
LN
Tamminga
E P
EP
Vegter-Van der Vlis
M
M
D000328:Adult; D005133:Eye Movements; D006801:Humans; D006816:Huntington Disease / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology*; D009801:Oculomotor Muscles / Q000502:physiology / Q000503:physiopathology*; D012016:Reference Values; D012438:Saccades