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Gerstmann-Sträussler-Scheinker disease. I. Extending the clinical spectrum

From the Departments of Neurology, Medical Genetics, Ophthalmology, and Pathology (Division of Neuropathology), Indiana University School of Medicine, Indianapolis, IN.

We present the clinical findings in affected members of a large kindred with Gerstmann-Sträussler-Scheinker disease. Sixty-four patients exhibited progressive ataxia, dementia, and parkinsonian features. Inheritance appears to be autosomal dominant. Impaired smooth-pursuit eye movements, defective short-term memory, clumsiness of the hands, and ataxia of gait develop in the late 30s to early 60s. Eye movement abnormalities are characteristic of cerebellar dysfunction. Dementia progresses gradually over several years. Later, rigidity and bradykinesia appear and, at this stage, there is often psychosis or severe depression with rapid weight loss. Death occurs in 6 months to 2 years after onset of rigidity. Magnetic resonance imaging in 2 affected individuals showed cerebellar atrophy. There is decreased T₂ signal in the basal ganglia, consistent with iron deposition.

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

Neuro-ophthalmologic studies were supported in part by an unrestricted research grant from Research to Prevent Blindness, Inc. (Dr. R.D. Yee).

Received August 11, 1988. Accepted for publication in final form May 25, 1989.

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