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Familial Creutzfeldt-Jakob disease: three autopsy cases of the panencephalopathic type
Insights
Familial Creutzfeldt-Jakob disease (CJD) cases showed varied clinical and neuropathological presentations. Despite shared terminal symptoms, individual disease progression and brain lesions differed significantly among affected family members.
Area of Science:
- Neuropathology
- Neurodegenerative Diseases
- Genetics
Background:
- Investigated three autopsy cases of panencephalopathic familial Creutzfeldt-Jakob disease (CJD) within a single family.
- Examined clinical and neuropathological variations in familial CJD, a rare prion disease.
Observation:
- Cases 1 and 3 (siblings) exhibited similar onset ages, illness durations, and symptom progression (neurological deficits, blindness, dementia).
- Case 2 (aunt) presented with later onset, longer duration, and initial dementia, differing from the siblings.
- Common terminal symptoms included myoclonus and apallic state across all three cases.
Findings:
- All cases demonstrated neuropathological features of panencephalopathic CJD.
- Cases 1 and 3 shared similar findings, including circumscribed necrotic foci in white matter.
- Case 2 showed diffuse demyelination and gliosis without necrotic foci, highlighting distinct neuropathological characteristics.
Implications:
- Clinical and neuropathological heterogeneity exists even within familial CJD kindreds.
- Understanding these variations is crucial for accurate diagnosis and potential therapeutic strategies.
- Further research into genetic and molecular factors influencing CJD presentation is warranted.
Abstract:
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 neuropsychiatric 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 months) and the initial symptom was dementia. Myoclonus and apallic state in the terminal stage were common to all 3 cases. Neuropathologically, all 3 cases had characteristics that indicated panencephalopathic type of CJD. Cases 1 and 3 had similar neuropathological findings with characteristic circumscribed necrotic foci in the subcortical white matter. In Case 2 in contrast, diffuse demyelination and fibrillary gliosis in the cerebral white matter were observed without circumscribed necrotic 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 neuropathological findings of our familial CJD cases were different from one another.