Supranuclear gaze palsy in familial Creutzfeldt-Jakob disease.

Seven affected individuals from three generations in a kindred having over 250 members were identified as having possible, probable, or definite Creutzfeldt-Jakob disease. Spongiform encephalopathy was found at postmortem examination in two cases. Detailed inpatient neurological examinations were performed on four of the subjects, three of whom were first observed with supranuclear gaze paralysis, gait ataxia, and rapidly progressive dementia. Supranuclear gaze paresis can be seen as an early feature of Creutzfeldt-Jakob disease, although it has been regarded as a late sign. In this, the largest reported kindred of Creutzfeldt-Jakob disease, most of the affected patients were farmers. Possible modes of infection are discussed.

Myelomalacia and hypoglycorrhachia in malignant atrophic papulosis.

A 25-year-old man with the skin lesions of malignant atrophic papulosis had clinical and electrodiagnostic evidence of a multifocal asymmetric myelomalacia or polyradiculopathy in association with elevated CSF protein and hypoglycorrhachia. Autopsy findings included widespread infarctions and necrosis of brain, brainstem, and spinal cord. The combined clinical and laboratory findings were similar to those seen in systemic lupus erythematosus, sarcoidosis, or meningeal carcinomatosis. Thus, malignant atrophic papulosis should be added to the differential diagnosis of either polyradiculopathy or myelomalacia.