Familial prion disease with Alzheimer disease-like tau pathology and clinical phenotype.

Abstract excerpt

OBJECTIVE: To describe the Alzheimer disease (AD)-like clinical and pathological features, including marked neurofibrillary tangle (NFT) pathology, of a familial prion disease due to a rare nonsense mutation of the prion gene (PRNP). METHODS: Longitudinal clinical assessments were available for the proband and her mother. After death, both underwent neuropathological evaluation. PRNP was sequenced after failure...

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