NR ADWF
AU Farlow,M.R.; Yee,R.D.; Dlouhy,S.R.; Conneally,P.M.; Azzarelli,B.; Ghetti,B.
TI Gerstmann-Sträussler-Scheinker disease. I. Extending the clinical spectrum.
QU Neurology 1989 Nov; 39(11): 1446-52
PT journal article
AB 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.
MH Adult; Brain/pathology; Case Report; Dementia/etiology; Depression/etiology; Electroencephalography; Female; Human; Magnetic Resonance Imaging; Male; Memory Disorders/etiology; Middle Age; Muscular Diseases/etiology; Nervous System Diseases/etiology; Parkinson Disease, Secondary/etiology; Pedigree; Slow Virus Diseases/complications/diagnosis/*genetics; Support, Non-U.S. Gov't
AD Department of Neurology, Indiana University School of Medicine, Indianapolis 46202-5124.
SP englisch
PO USA