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Gerstmann-Sträussler-Scheinker disease II. Neurofibrillary tangles and plaques with PrP-amyloid coexist in an affected family

From the Departments of Pathology (Division of Neuropathology) (Drs. Ghetti and Azzarelli), Neurology (Dr. Farlow), Medical Genetics (Drs. Conneally and Dlouhy), Indiana University School of Medicine, Indianapolis, IN; Division of Neuropathology (Drs. Tagliavini, Giaccone, Verga, and Bugiani), Istituto C. Besta, Milan, Italy; Department of Pathology (Dr. Masters), University of Melbourne, Parkville, Victoria, Australia; and the Center for Molecular Biology (Dr. Beyreuther), University of Heidelberg (ZMBH), Heidelberg, FRG.

Azzarelli et al reported an Indiana kindred affected by a hereditary disorder, characterized clinically by ataxia, parkinsonism, and dementia. Recently, we studied neuropathologically the 3rd and 4th cases that came to autopsy among the patients of this family. As in 2 patients examined previously, amyloid plaques were widespread throughout the cerebrum and the cerebellum, whereas neurofibrillary tangles were numerous in the cerebral cortex, the hippocampus, and the substantia innominata. Amyloid plaques were not recognized by polyclonal antibodies against the Alzheimer's disease amyloid A4 protein, but did contain epitopes recognized by antibodies against a prion protein. Spongiform changes were occasionally observed and were mild. Our findings indicate that this familial disorder is a form of or is related to Gerstmann-Sträussler-Scheinker disease. The consistent presence of numerous neurofibrillary tangles may be important in differentiating a distinct subgroup of patients with familial Gerstmann-Sträussler-Scheinker disease, and indicates that a disturbance of the cytoskeleton might be part of the neuronal pathology of Gerstmann-Sträussler-Scheinker disease.

Address correspondence and reprint requests to Dr. Ghetti, Department of Pathology, Indiana University School of Medicine, 635 Barnhill Drive, Indianapolis, IN 46202–5120.

Supported in part by grant PHS 1 R03 AG 05563–01 to B.G.; by a grant to O.B. from the Italian Ministry of Health, Department of Social Services; by the Department of Pathology. Indiana University School of Medicine; and by gifts from relatives of Alzheimer patients.

Received April 19, 1989. Accepted for publication in final form May 25, 1989.

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