FAMILIAL CREUTZFELDT-JAKOB-DISEASE - 3 AUTOPSY CASES OF THE PANENCEPHALOPATHIC TYPE

Three autopsy cases of panencephalopathic type of familial Creutzfeldt -Jakob disease (CJD) were investigated. Cases 1 (51-year-old male) and 3 (54-year-old female) were siblings and Case 2 (68-year-old female) was their aunt. In cases 1 and 3, the age of onset (Case 1:51, Case 3: 53), duration of illness (Case 1:9 months, Case 3:8 months) and neuro psychiatric symptoms (pyramidal and extrapyramidal tracts involvements , blindness and dementia in chronological order) were similar, but in Case 2, the onset was later (66 years old), duration was longer (32 mo nths) and the initial symptom was dementia. Myoclonus and apallic stat e in the terminal stage were common to all 3 cases. Neuropathologicall y, all 3 cases had characteristics that indicated panencephalopathic t ype of CJD. Cases 1 and 3 had similar neuropathological findings with characteristic circumscribed necrotic foci in the subcortical white ma tter. In Case 2 in contrast, diffuse demyelination and fibrillary glio sis in the cerebral white matter were observed without circumscribed n ecrotic foci. In the cerebellum of Case 3, granular cell loss was very slight. The other lesions in the cerebral cortex and striatum of the 3 cases were common. In conclusion, the clinical symptoms and neuropat hological findings of our familial CJD cases were different from one a nother.