Neurophysiological abnormalities in the Westphal variant of Huntington's disease.
The Westphal variant of Huntington's disease (HD) is a distinct clinical entity of HD characterized by a rigid-hypokinetic syndrome and is often associated with a juvenile onset of disease. Definite genetic differences between the subtypes of HD have not been delineated so far. Here we present the results of a battery of neurophysiological tests including somatosensory-evoked potentials, blink reflexes, long-latency reflexes, and measurement of saccadic velocities in a Westphal HD patient. Although quantitative assessment of his motor performance showed a severe hypokinetic syndrome resembling Parkinson's disease, the results of somatosensory-evoked potentials and blink reflexes were indistinguishable from results obtained in hyperkinetic HD patients. Long-latency reflexes, however, which are typically absent in hyper-kinetic HD patients, were retained in this patient. It is concluded that neurophysiology in HD patients is not a mere reflection of the patient's symptomatology but can give insight into the underlying pathophysiological process.
Töpper
R
R
Department of Neurology, Technical University of Aachen, Germany.
Schwarz
M
M
Lange
H W
HW
Hefter
H
H
Noth
J
J
D000328:Adult; D001767:Blinking / Q000502:physiology; D004576:Electromyography; D005073:Evoked Potentials, Somatosensory / Q000502:physiology; D005385:Fingers; D006801:Humans; D006816:Huntington Disease / Q000145:classification / Q000503:physiopathology*; D007537:Isometric Contraction / Q000502:physiology; D008297:Male; D012018:Reflex / Q000502:physiology; D012438:Saccades / Q000502:physiology