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NEUROLOGY 1994;44:1508
© 1994 American Academy of Neurology

Cerebrospinal fluid levels of amyloid ß-protein precursor are low in Gerstmann-Sträussler-Scheinker disease, Indiana kindred

M. Farlow, MD, B. Ghetti, MD, S. Dlouhy, PhD, G. Giaccone, MD, O. Bugiani, MD, F. Tagliavini, MD and S. Wagner, PhD

Departments of Neurology (Dr. Farlow), Pathology and Laboratory Medicine (Dr. Ghetti), and Medical and Molecular Genetics (Dr. Dlouhy), Indiana University School of Medicine, Indianapolis, IN; the Istituto Neurologico Carlo Besta (Drs. Giaccone, Bugiani, and Tagliavini), Milano, Italy; and the Salk Institute Biotechnology/ Industrial Associates, Inc. (Dr. Wagner), La Jolla, CA.

We studied levels of amyloid ß-protein precursor (ß PP) in CSF from four patients affected with Gerstmann-Sträussler-Scheinker disease and one asymptomatic gene-carrier from an Indiana kindred. Levels of ßPP were decreased in all affected patients with the lowest levels occurring in the clinically most severely affected patients. Correlation of neuropathology with CSF data in three patients suggested that low ßPP in CSF may be associated with ßPP accumulation in neurites surrounding cortical and cerebellar amyloid deposits.

Address correspondence and reprint requests to Dr. Martin R. Farlow, Department of Neurology, Indiana University School of Medicine, Emerson Hall, Room 125, 545 Barnhill Drive, Indianapolis, IN 46202-5124.

Supported in part by grants PHS ROl NS29822 and PHS RO1 AG1013301, and partly supported by the Italian Ministry of Health, Department of Social Services.

Received July 29, 1993. Accepted in final form January 26, 1994.






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