Gerstmann-Sträussler-Scheinker syndrome

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Gerstmann-Sträussler-Scheinker syndrome

 [gerst´mahn-shtrois´ler-shīn´ker]
a group of rare prion diseases, inherited as an autosomal dominant trait but linked to different mutations of the prion protein gene. All forms of the syndrome have the common characteristics of cognitive and motor disturbances and the presence of numerous amyloid plaques in the brain. Three forms have been recognized: the ataxic form, which is accompanied by progressive cerebellar ataxia and dementia; the telencephalic form, which is accompanied by dysarthria, dementia, rigidity, tremor, and hyperreflexia; and Gerstmann-Strässler-Scheinker syndrome with neurofibrillary tangles, in which there are progressive short-term memory loss and clumsiness. Death occurs in 1 to 5 years.

Gerst·mann-Sträuss·ler-Schein·ker syn·drome

(gerst'mahn stris'lĕr shīn'kĕr), [MIM*137440]
a chronic cerebellar form of spongiform encephalopathy.

Gerstmann,

Josef, Austrian neurologist, 1887-1969.
Gerstmann syndrome - finger agnosia, agraphia, confusion of laterality of body, and acalculia caused by lesions between the occipital area and the angular gyrus.
Gerstmann-Sträussler syndrome - a more chronic cerebellar form of spongiform encephalopathy.
Gerstmann-Sträussler-Scheinker syndrome

Sträussler,

E., Austrian physician.
Gerstmann-Sträussler syndrome - see under Gerstmann
Gerstmann-Sträussler-Scheinker syndrome

Gerst·mann-Sträuss·ler-Schein·ker syn·drome

(gerstmahn-strislĕr-shīnkĕr sindrōm) [MIM*137440]
Chronic cerebellar form of spongiform encephalopathy.
References in periodicals archive ?
Small ruminant nor98 prions share biochemical features with human Gerstmann-Straussler-Scheinker disease and variably protease-sensitive prionopathy.
Gerstmann-Straussler-Scheinker disease subtypes efficiently transmit in bank voles as genuine prion diseases.
Brown et al., "Different patterns of truncated prion protein fragments correlate with distinct phenotypes in P102L Gerstmann-Straussler-Scheinker disease," Proceedings of the National Academy of Sciences of the United States of America, vol.
Kovacs, and P Piccardo, "Gerstmann-Straussler-Scheinker disease," in Neurodegeneration: The Molecular Pathology of Dementia and Movement Disorders, D.
Lievens et al., "Phenotypic variability of Gerstmann-Straussler-Scheinker disease is associated with prion protein heterogeneity," Journal of Neuropathology and Experimental Neurology, vol.
Dlouhyet al., "Proteinase-K-resistant prion protein isoforms in Gerstmann-Straussler-Scheinker disease (Indiana kindred)," Journal of Neuropathology and Experimental Neurology, vol.
Tranchant et al., "A 7-kDa prion protein (PrP) fragment, an integral component of the PrP region required for infectivity, is the major amyloid protein in Gerstmann-Straussler-Scheinker disease A117V" Journal of Biological Chemistry, vol.
Ghiso et al., "Amyloid protein of Gerstmann-Straussler-Scheinker disease (Indiana kindred) is an 11 kd fragment of prion protein with an N-terminal glycine at codon 58," EMBO Journal, vol.
Porro et al., "Amyloid fibrils in Gerstmann-Straussler-Scheinker disease (Indiana and Swedish kindreds) express only PrP peptides encoded by the mutant allele," Cell, vol.
Based on this principle, the sporadic form of Creutzfeldt-Jakob disease (sCJD) belongs to the transmissible disease group, whereas most of the Gerstmann-Straussler-Scheinker diseases (GSS), a group comprising exclusively inherited forms, were considered difficult to transmit or not transmissible (7-10).