Abstract

Thenar reflexes following electrical stimulation of the median nerve (containing proprioceptive and cutaneous afferents) and the radial superficial nerve (cutaneous afferents only) were investigated in 23 patients with manifest Huntington's disease (HD) at an early stage, in 17 clinically healthy descendants of HD-patients and in 18 patients with choreatic hyperkinesia due to various aetiologies other than HD. In 61% of the patients with early HD the long-latency reflexes (LLR) were uni- or bilaterally absent in response to both median nerve and radial superficial nerve stimulation. The remaining patients had a diminished mean amplitude and mean duration of their LLR. In contrast, offspring and patients with symptomatic chorea had preserved LLR which did not differ in amplitude or duration from normal controls. Additionally, the mean amplitude and mean duration of the Hoffmaan-reflex (HR) was found to be increased in patients with HD and their offspring but not in patients with other aetiologies. It is concluded (1) that the loss of LLR is not related to the choreatic hyperkinesia itself but to the degeneration of a hitherto poorly defined neuronal circuit in HD; (2) that among a variety of diseases presenting with chorea, the loss of LLR seems to be specific for HD; (3) that the testing of hand muscle reflexes in choreatic movement disorders is helpful for the differential diagnosis of early HD but not for the detection of gene carriers among offspring of patients with HD.