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Nine patients with multiple system atrophy (MSA) were studied based on MRI findings of cerebral hemispheric involvement. The age at onset was 56.4+/-8.6 (mean+/-S.D.) years, duration of illness at the first MRI study 2.1+/-1.1 years, duration of illness at the last study 9.7+/-2.6 years, and the follow-up duration 7.6+/-2.3 years. Controls were 85 neurologically intact persons (60.2+/-11.1 years age). In the MRI study, measurements of the ratio of each area to the intracranial area were performed for the cerebral hemisphere, frontal, temporal and parietal-occipital lobes. A significant progression of atrophy to under the normal limit was observed in the cerebrum, frontal and temporal lobes. Besides the typical pathological lesions in MSA, five autopsied patients revealed frontal lobe atrophy with mild gliosis, mild demyelination and glial cytoplasmic inclusions (GCIs). One of these patients showed remarkable frontal lobe atrophy with degenerative changes in the cerebral cortex. We observed the involvement of the cerebral hemisphere, especially the frontal lobe.

The diurnal changes of serum myoglobin level and CK activity were investigated in 20 cases of Duchenne dystrophy and 6 normal males under ordinary circumstances in their daily lives. Changes of myoglobin levels were also checked in 25 cases of Duchenne carrier and 11 control females with muscular exercise by ergometer of 70 W for 3 min. In Duchenne dystrophy, the myoglobin level was rather low before waking up, then it abruptly increased thereafter and remained high until retiring. The fluctuation range of myoglobin was greater than that of CK. The myoglobin level of control males was extremely low compared with that in Duchenne dystrophy. In Duchenne carriers, although CK activity did not significantly change after the exercise, 5 of 11 known carriers showed an increased myoglobin level.

Tuberoinfundibular dopaminergic system (TIDA) together with anterior pituitary dopamine receptor was evaluated in 9 patients with Shy-Drager syndrome (SDS) through the responses of serum growth hormone (GH) and prolactin (PRL) to dopaminergic stimulation or dopamine receptor inhibition. A variety of abnormal responses of serum GH and/or PRL following the administration of these drugs suggests the TIDA involvement as well as the nigrostriatal system and moreover the different degeneration processes in each dopaminergic system in SDS.

Evaluation of glutamate dehydrogenase (GDH) in 12 patients with olivopontocerebellar atrophy showed deficiency of the enzyme in the group as well as in each patient. The activity of total GDH was 77.7% of that in controls. We also demonstrated two components of this enzyme differentiated by their thermostabilities. The activity of the heat-labile component was remarkably reduced in patients although that of the heat-stable component showed the same magnitude as in controls. These data suggest that GDH deficiency is mainly caused by its heat-labile component deficiency, which might be related to the pathogenesis of this disease.

The effects are studied of the oral administration of RU38486, a potent selective glucocorticoid antagonist, on muscle weight, non-collagen protein content, and selected enzyme activities (choline acetyltransferase, glucose 6-phosphate dehydrogenase, and glutamine synthetase) following denervation of rat skeletal muscle. Neither decreases in muscle weight, protein content, and choline acetyltransferase activity, nor increases in the activities of glucose 6-phosphate dehydrogernase and glutamine synthetase were affected by RU38486. These data do not support the hypothesis that denervation atrophy results from enhanced sensitivity of muscle to endogenous glucocorticoids.

Endocrine abnormalities in myotonic dystrophy (MyD) reflect some of the multi-systemic involvement resulting from this disorder. One of these, abnormal insulin secretion, is considered to be caused by receptor dysfunction. Bone abnormalities, cataract and calcium transport defect suggest the abnormal calcium metabolism in MyD. The calcium metabolism is chiefly regulated by parathyroid hormone (PTH). An interest in the similarity between MyD and pseudohypoparathyroidism, which is a disorder of PTH receptor dysfunction, encouraged the authors to evaluate renal PTH receptor function from the responses of urinary adenosine 3',5'-monophosphate (cAMP) and phosphate excretion after administration of human PTH(1-34). The responses of cAMP were high in 3 cases, low in one case, but normal in the 4 other cases. The phosphaturic responses were elevated in 3 cases, reduced in 3 cases, and normal in 2 other cases. Since these abnormal responses closely mimic those in hypoparathyroidism, there may also be renal PTH receptor dysfunction in some cases of MyD. The results of the present study suggest another peptide hormone receptor defect, similar to insulin, which supports the hypothesis of generalised receptor dysfunction in MyD.