Related Experiment Videos
Creutzfeldt-Jakob disease in a husband and wife
P Brown1, L Cervenáková, L McShane
1Laboratory of CNS Studies, NINDS, National Institutes of Health, Bethesda, MD 20892, USA.
Insights
A husband and wife both developed sporadic Creutzfeldt-Jakob disease (CJD), a rare neurodegenerative disorder. The cause remains unclear, with possibilities including human transmission or a coincidental occurrence.
Area of Science:
- Neurology
- Prion Diseases
Background:
- Creutzfeldt-Jakob disease (CJD) is a rare, fatal neurodegenerative disorder characterized by rapidly progressive dementia.
- Sporadic CJD accounts for the majority of cases and its etiology is unknown.
Observation:
- A 53-year-old man died of sporadic CJD with typical clinical and neuropathological findings.
- His wife, aged 55, died of CJD approximately 4.5 years later after a short illness.
- Both brains showed the characteristic prion protein (PrP).
Findings:
- Neither patient had a family history of neurological disease or identifiable risk factors for CJD.
- Genetic analysis of the prion protein (PrP) gene revealed no mutations.
- The co-occurrence of CJD in a married couple is highly unusual.
Implications:
- The findings raise questions about potential, unrecognised transmission routes for sporadic CJD.
- Alternatively, this case may represent a statistically improbable chance occurrence of the disease in a shared household.
- Further investigation is needed to understand the etiology of sporadic CJD, especially in familial clusters.
Abstract:
A 53-year-old man died of sporadic Creutzfeldt-Jakob disease (CJD) after a 1.5-year clinical course. Four and a half years later, his then 55-year-old widow died from CJD after a 1-month illness. Both patients had typical clinical and neuropathologic features of the disease, and pathognomonic proteinase-resistant amyloid protein ("prion" protein, or PrP) was present in both brains. Neither patient had a family history of neurologic disease, and molecular genetic analysis of their PrP genes was normal. No medical, surgical, or dietary antecedent of CJD was identified; therefore, we are left with the unanswerable alternatives of human-to-human transmission or the chance occurrence of sporadic CJD in a husband and wife.