Early-onset, rapidly progressive familial tauopathy with R406W mutation.
case_report · Level V
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Abstract
An early-onset and rapidly progressive familial tauopathy with R406W mutation is described. The patient was a 47-year-old man who first presented with psychiatric symptoms followed by overt dementia at age 52 and died 1 year later. Postmortem study revealed tangle-associated neuronal degeneration, accentuated in the medial temporal lobe. R406W mutation was determined by sequence analysis and immunocytochemically with anti-mutant tau antibody.
Medical subject headings
- Dementia
- Tauopathies
- tau Proteins