Familial presenile dementia with CJD-like lesions: preliminary results

A case of an unknown type of familial presenile dementia is reported. The patient was a 56-year-old female, whose main clinical symptom was a gradually progressive dementia over 16 years. She had no myoclonus or periodic synchronous discharge in the EEG. The CT scans revealed marked cerebral atrophy with prominent atrophy of the cerebral white matter. One of her sisters is thought to suffer from the same disease, and is now in an apallic state. The patient was clinically diagnosed as having familial Alzheimer's disease. The neuropathological features consisted of severe cerebral cortical degeneration with conspicuous proliferation of gemistocytic astrocytes as well as severe cerebral white matter degeneration. These cerebral lesions are most similar to those of the panencephalopathic type of Creutzfeldt-Jakob's disease (CJD). However, our case differs from it in that the cerebellar degeneration was very mild. Transmission experiments of frozen tissue from the patient into animals are being tried. The neurochemical data suggested cholinergic deficits. As far as we know, such a case has never been reported in the literature.