Familial cerebral amyloidosis and spongiform encephalopathy.
Clinical and neuropathological investigations are presented of the "W" family in which there is a dominant inheritance of slowly progressive cerebellar ataxia and dementia. The disease is of insidious onset and its average duration more than 4 years. Pathological findings included amyloid deposition in cerebellar and cerebral tissue; vascular amyloid in one case; and spongiform encephalopathy and astrocytic hyperplasia typical of Creutzfeldt-Jakob disease. Neuritic plaques of the senile (Alzheimer) type were present to a lesser extent. This study confirms the familial association between cerebral amyloidosis and spongiform encephalopathy.
D000328:Adult; D000368:Aged; D000686:Amyloidosis / Q000235:genetics* / Q000473:pathology; D001253:Astrocytes / Q000473:pathology; D001921:Brain / Q000473:pathology*; D001927:Brain Diseases / Q000235:genetics* / Q000473:pathology; D007562:Creutzfeldt-Jakob Syndrome / Q000473:pathology; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D006965:Hyperplasia; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D013577:Syndrome