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Autopsy-proven progressive supranuclear palsy in two siblings

From the Parkinson's Institute (Dr. Tetrud), Sunnyvale, CA; the Department of Neurology (Dr. Golbe), UMDNJ-Robert Wood Johnson Medical Center, New Brunswick, NJ; the Department of Pathology (Dr. Forno), V.A. Medical Center, Palo Alto, CA; and the Department of Pathology (Dr. Farmer), North Shore University Hospital, Manhasset, NY.
Supported by the V.A. Medical Research Program and The Parkinson's Institute.
Presented in part in abstract form at the Third International Congress of Movement Disorders, Orlando, FL, November 7 to 11, 1994.
Received April 28, 1995. Accepted in final form July 18, 1995.
Address correspondence and reprint requests to Dr. James Tetrud, The Parkinson's Institute, Sunnyvale, CA 94089.

Progressive supranuclear palsy (PSP) is a neurodegenerative disorder that is generally considered to be nonfamilial.We report a brother and sister with clinical and pathologic findings characteristic of PSP. Both developed parkinsonism in the eighth decade of life and within 5 years exhibited severe postural instability, bradykinesia, rigidity, dystonia, dysarthria, dysphagia, urinary incontinence, pseudobulbar palsy, and supranuclear oculomotor dysfunction but no tremor. Neither responded to levodopa and/or carbidopa. Their mother and, possibly, maternal grandfather reportedly suffered from a parkinsonian syndrome. Essential tremor occurred in the siblings' father and in two of the brother's three children. Autopsy in the brother at age 81 years and sister at age 79 years revealed changes typical of PSP with atrophy and neurofibrillary tangles in the globus pallidus, subthalamic nucleus, and rostral tegmental brainstem. No Lewy bodies were present. These cases are the first pair of relatives reported with autopsy confirmation of PSP in both and raise the question of genetic predisposition to PSP.

NEUROLOGY 1996;46: 931-934.

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