Morbus Gerstmann-Sträussler-Scheinker

The clinical symptoms from three cases and histological findings from two patients suffering from morbus Gerstmann-Sträussler-Scheinker (M-GSS) are reported. This disease belongs to the group of subacute spongiform encephalopathies. It is extremely rare and so far has only been observed in 52 members of four large families, in which the symptoms begin between the age of 33 and 50 and lead to death in 4-5 years. In the family reported here, cerebellar symptoms including myoclonia and later dementia, bulbar, and pyramidal symptoms were typical; two patients also had deterioration of vision and hearing. CSF and other biochemical data were normal. The EEGs showed progressive general slowing without periodic dysrhythmia. Evoked potential gave no evidence of demyelinization. The disease may safely be distinguished from morbus Creutzfeldt-Jakob (M-CJ) and Alzheimer's disease by histology, which reveals kuru plaques in most cases and invariably multicentric plaques as well as cortical spongiform changes of varying degree with loss of nerve cells and glial proliferation; however, only minor degenerative alterations in the cortical vessels are seen. The transmission to monkeys and histological similarities to M-CJ and kuru suggest a slow virus related to that causing scrapie. Alternatively, the genetically determined susceptibility of the patient may decide the type of reaction to the slow virus. The disposition to M-GSS is autosomally dominant.