We studied a family of Portuguese ancestry from the Azores who suffered a progressive neurologic disease characterized by gait ataxia, features similar to Parkinson's disease in some patients, limitation of eye movements, widespread fasciculations of muscles, loss of reflexes in the lower limbs, followed by nystagmus, mild cerebellar tremor and extensor plantar responses. Two post-mortem examinations revealed loss of neurons and gliosis in the substantia nigra, nuclei pontis (and in the putamen in one case) as well as in the nuclei of the vestibular and other cranial nerves, columns of Clarke and anterior horns, in the spinal cord there were also loss of fibers in the fasciculi gracilis and mild changes in the pyramidal tracts. Comparison of the disease in this family with the findings reported in three families of similar ancestry, previously thought to have different disorders, suggests that they may all represent a single genetic entity with variable expression.

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Electro-oculographic recordings (EOG) were made on 26 patients with Machado-Joseph disease or at genetic risk for that disease. All patients with clinically apparent disease (ataxia, dysarthria, spasticity, or ophthalmoparesis) had abnormal eye movements. Defects in caloric response, sinusoidal tracking, opticokinetic nystagmus (OKN), refixation saccades, and presence of gaze paretic nystagmus were detected in that order of frequency. Fourteen subjects were clinically at risk but had normal neurologic examinations or minor equivocal signs. Nine of the fourteen had abnormal EOG, with sinusoidal tracking, calories, refixation saccades, OKN, and gaze paretic nystagmus being abnormal in that order. EOG may be useful in early case detection and may contribute to genetic counseling.

A markedly elevated BB isoenzyme fraction of serum creatine kinase was noted in four male siblings and correlated with typical radiographic findings of autosomal dominant osteopetrosis Type II (ADO Type II). Patients with other sclerosing bone diseases had no elevation of CK‐BB. The precision of the electrophoretic mobility patterns and correlation by I‐125 tagged radioimmunoassay method confirms that this is CK‐BB. We postulate that the dysfunctional and/or immature osteoclasts in ADO are more dependent on CK‐BB than on the usual tricarboxylic acid cycle for the production of energy. The correlation of marked elevation of serum CK‐BB with radiographic evidence of ADO Type II may prove to be of value as a biologic marker in the early diagnosis of the illness and lead to better understanding of the metabolism of bone.

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