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We present a Midwestern American pedigree spanning four generations in which 15 individuals were affected by early\u2010onset dementia with long disease duration, with an autosomal dominant inheritance pattern, and with \u03b1\u2010rich neurofibrillary pathology found in the brain post mortem. The average age at presentation was 55 years with gradual onset and progression of memory loss and personality change. After 30 years'l disease duration, the proband's neuropathologic examination demonstrated abudant intraneuronal neurofibrillary tangles (NFTs) involving the hippocampus, pallidum, subthalamic nucleus, substantia nigra, pons, and medulla. Only sparse neocortical tangles were present and amyloid plaque were absent. The tangles were recognized by antibodies specific for phosphorylation\u2010independent (Tau\u22122, T46, 133, and Alz\u201050) and phosphorylation\u2010dependent epitopes (AT8, T3P, PHF\u20101, 12E8, AT6, AT18, AT30) in proteins. Electron microscopy of NFTs in the dentate gyrus and midbrain demonstrated paired helical filaments. Although the clinical phenotype resembles Alzheimer's disease, and the neuropathologic phenotype resembles progressive supranuclear palsy, an alternative consideration is that this familial disorder may be a new or distinct disease entity.<\/jats:p>","DOI":"10.1002\/ana.410420406","type":"journal-article","created":{"date-parts":[[2005,1,1]],"date-time":"2005-01-01T15:04:20Z","timestamp":1104591860000},"page":"564-572","source":"Crossref","is-referenced-by-count":153,"title":["Autosomal dominant dementia with widespread neurofibrillary tangles"],"prefix":"10.1002","volume":"42","author":[{"given":"Lee A.","family":"Reed","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert L.","family":"Schelper","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana","family":"Solodkin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gary 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