Gerstmann-straussler-scheinker disease. I. extending the clinical spectrum

M. R. Farlow, R. D. Yee, S. R. Dlouhy, P. M. Conneally, B. Azzarelli, B. Ghetti

Research output: Contribution to journalArticlepeer-review

79 Scopus citations


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 T<inf>2</inf> signal in the basal ganglia, consistent with iron deposition.

Original languageEnglish (US)
Pages (from-to)1446-1452
Number of pages7
Issue number11
StatePublished - Nov 1989

ASJC Scopus subject areas

  • Clinical Neurology

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