{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,18]],"date-time":"2026-09-18T18:16:27Z","timestamp":1789755387625,"version":"4.0.1"},"reference-count":32,"publisher":"American Medical Association (AMA)","issue":"9","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Arch Neurol"],"published-print":{"date-parts":[[2011,9,1]]},"abstract":"<jats:sec><jats:title>Objective<\/jats:title><jats:p>To report the clinical, electroencephalographic, and neuroradiologic findings in a kindred with a novel insertion in the prion protein gene, <jats:italic>PRNP<\/jats:italic>.<\/jats:p><\/jats:sec><jats:sec><jats:title>Design<\/jats:title><jats:p>Clinical description of a kindred.<\/jats:p><\/jats:sec><jats:sec><jats:title>Setting<\/jats:title><jats:p>Mayo Clinic Alzheimer Disease Research Center (Rochester, Minnesota).<\/jats:p><\/jats:sec><jats:sec><jats:title>Subjects<\/jats:title><jats:p>Two pathologically confirmed cases and their relatives.<\/jats:p><\/jats:sec><jats:sec><jats:title>Main Outcome Measures<\/jats:title><jats:p>Clinical features, electroencephalographic patterns, magnetic resonance imaging abnormalities, genetic analyses, and neuropathologic features.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The proband was a woman with clinical and neuroimaging features of atypical frontotemporal dementia and ataxia. Generalized tonic-clonic seizures developed later in the disease course, and electroencephalography revealed spike and wave discharges but no periodic sharp-wave complexes. Her affected sister and father also exhibited frontotemporal dementia\u2013like features, and both experienced generalized tonic-clonic seizures and gait ataxia late in the disease course. Genetic analyses in the proband identified a novel defect in <jats:italic>PRNP<\/jats:italic>, with 1 mutated allele carrying a 288\u2013base pair insertion consisting of 12 octapeptide repeats. Neuropathologic examination of the proband and her sister revealed prion protein\u2013positive plaques and widespread tau-positive tangles.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>This kindred has a unique combination of clinical and neuropathologic features associated with the largest base pair insertion identified to date in <jats:italic>PRNP<\/jats:italic> and underscores the need to consider familial prion disease in the differential diagnosis of a familial frontotemporal dementia\u2013like syndrome.<\/jats:p><\/jats:sec>","DOI":"10.1001\/archneurol.2011.187","type":"journal-article","created":{"date-parts":[[2011,9,12]],"date-time":"2011-09-12T20:30:36Z","timestamp":1315859436000},"page":"1165","source":"Crossref","is-referenced-by-count":26,"title":["Clinical Characterization of a Kindred With a Novel 12-Octapeptide Repeat Insertion in the Prion Protein 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