Autopsy-proven progressive supranuclear palsy in two siblings

James W. Tetrud, Lawrence I. Golbe, Lysia S. Forno, Peter M. Farmer

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Abstract

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.

Original languageEnglish (US)
Pages (from-to)931-934
Number of pages4
JournalNeurology
Volume46
Issue number4
DOIs
StatePublished - Apr 1996

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All Science Journal Classification (ASJC) codes

  • Clinical Neurology

Cite this

Tetrud, J. W., Golbe, L. I., Forno, L. S., & Farmer, P. M. (1996). Autopsy-proven progressive supranuclear palsy in two siblings. Neurology, 46(4), 931-934. https://doi.org/10.1212/WNL.46.4.931