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To evaluate the clinical characteristics of Machado-Joseph disease (MJD) with reference to CAG repeat length and disease duration, we analyzed neurologic findings in 108 patients from 84 families. The majority of MJD patients presented with an ataxic gait as the initial symptom. Dysarthria and nystagmus were observed from an early stage. Bulging eyes, muscle atrophy and bradykinesia developed later. Patients with a shorter CAG repeat length or later onset had more frequent involvement of proprioceptive sensory deficit. Incidence of abnormal reflexes, tones, and proprioceptive sensation was not associated with disease duration, but with CAG repeat length. Based on these results, we propose a new clinical classification: type A (juvenile type), with hyperreflexia and dystonia, but without a proprioceptive sensory deficit; type C (adult type), with hyporeflexia and a proprioceptive sensory deficit, but without dystonia; and type B (intermediate type), the remaining patients with a mixed presentation.

In 30 patients with Parkinson's disease, 55 patients with other neurological disorders and 25 normal subjects, both upper eyelid movements and orbicularis oculi reflexes to repetitive glabella taps were simultaneously recorded using a newly devised apparatus for the measurement of eyelid movement. Upper lid movement during the blink reflex has been thought to correspond to the late component of the two components of the orbicularis oculi reflex, and failure of habituation of the late component to repetitive stimuli has been considered to be responsible for the glabella tap sign. However, the present study showed that the eyelid lowered after the early component (R1), and habituation of the late component (R2) was recognized in 31% of subjects with the glabella tap sign. This shows that there is no direct causal relationship between the glabella tap sign and lack of the habituation of the late component.

The toxicity of eosinophils towards peripheral nerves was examined using cultures of posterior ganglion cells from chick embryos. Eosinophils were also derived from a patient with significant "hyper-eosinophilia", peripheral neuropathy, bronchial asthma, myocardial damage and skin involvement. A sural nerve biopsy showed a severe to almost complete loss of myelinated fibers without pathological changes suggesting necrotizing vasculitis. Surviving neurons in a culture containing the patient's eosinophils or serum were markedly decreased in number as compared with those in normal subjects. These results support the possibility that the peripheral neuropathy in the patient caused by toxic agents derived from eosinophils.

Three cases from 2 families had muscle weakness with predilection for distal extremities, predominantly affecting the tibialis anterior muscles, and onset in early adulthood. The disorder seemed to be inherited through an autosomal recessive trait. The EMG demonstrated a myopathic pattern and CPK was mildly elevated. The striking finding in their muscle biopsies was the presence of "rimmed" vacuoles which had acid phosphatase-positive autophagic activity and which contained numerous concentric lamellar bodies in various forms (myeloid and cabbage bodies). Despite rapid clinical progression, not only necrotic fibers with phagocytosis, as seen in Duchenne dystrophy, but also evidence of regeneration were virtually absent. Continuous destruction of myofibrils by activation of certain lysosomal proteolytic enzymes might be responsible for the production of atrophic fibers.