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From the Alzheimer's Disease Research Center (Drs. Sumi, Bird, Nochlin, and Raskind); Laboratory of Neuropathology, Department of Pathology (Drs. Sumi and Nochlin); Division of Neurology, Department of Medicine (Drs. Sumi and Bird); Department of Psychiatry and Behavioral Sciences (Dr. Raskind), University of Washington; and Seattle VA Medical Center (Drs. Bird and Raskind), Seattle, WA.
We report a family in which 13 members in three generations had the presenile (age 42 to 66 years) onset of dementia with an autosomal dominant pattern of inheritance. An early symptom in eight individuals was prominent antisocial psychotic or belligerent behavior, often leading to the initial clinical diagnosis of paranoid schizophrenia. Duration of illness was longer than is usual in Alzheimer's disease (AD), ranging from 14 to 26 years in six members. Three affected siblings and a cousin have come to autopsy, and all had neurofibrillary tangles without senile plaques in several regions of the neocortex, amygdala, and parahippocampal gyrus. The hippocampus was free of both neurofibrillary tangles and senile plaques in all four, but in three there was neuronal loss with gliosis in the CA1 region of Ammon's horn bilaterally. There also was neuronal loss and neurofibrillary tangles in the nucleus basalis. The neurofibrillary tangles were tau-2 and Alz-50 positive and were composed of paired helical filaments ultrastructurally. The disease in this kindred appears to be a unique hereditary disorder that is distinct from familial AD.
Address correspondence and reprint requests to Dr. S.M. Sumi, Laboratory of Neuropathology, RJ-05, University of Washington School of Medicine, Seattle, WA 98195.
Supported by NIH grants AG05136, AG 08419, GM15253, Veterans Affairs Medical Research Fund, the American Health Assistance Foundation, and the Friends of Alzheimer's Disease Research Fund.
Received May 7, 1991. Accepted for publication in final form July 9, 1991
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