Gerstmann-Sträussler-Scheinker syndrome

(redirected from Gerstmann-Straussler-Scheinker syndrome)

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-Sträussler-Scheinker syndrome

[gerst′män shtrois′lershīn′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-Sträussler-Scheinker syndrome with neurofibrillary tangles, in which there is progressive short-term memory loss and clumsiness. Death occurs in 1 to 5 years.

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.
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References in periodicals archive ?
About 10 to 15 percent of prion diseases are caused by a mutation in the PRNP gene, leading to such deadly diseases as Creutzfeldt-Jakob disease, Gerstmann-Straussler-Scheinker syndrome and fatal familial insomnia, the disease that killed Vallabh's mother.
Human genetic TSEs are caused by >30 autosomal-dominant point mutations in the human prion protein gene (Prnp) and have been classified as Gerstmann-Straussler-Scheinker syndrome, familial Creutzfeldt-Jakob disease, or fatal familial insomnia (FFI), according to the clinical symptoms.
Human TSEs are very rare and include CJD, fatal familial insomnia, Gerstmann-Straussler-Scheinker Syndrome and Kuru.
Since the discovery of CJD and vCJD other degenerative neurologic diseases were identified including kuru (a disorder that surfaced among the South Fore people (a tribe of remote highland natives) of New Guinea who practiced mortuary cannibalism reaching epidemic levels in the 1960s), Gerstmann-Straussler-Scheinker syndrome (GSS) (a familial autosomal dominant disease occurring in the fourth and fifth decade of life), and fatal familial insomnia (FFI) (an autosomal dominant disease discovered by an Italian physician in 1979 and carried in the genome of 28 families worldwide).
Related prion disorders include Gerstmann-Straussler-Scheinker syndrome, which is marked by cerebellar ataxia; and prion protein (PrP) and atypical forms of CJD caused by other mutations of the PrP gene (PRNP).
The TSE family of diseases includes bovine spongiform encephalopathy (BSE), which affects cattle; transmissible mink encephalopathy; feline spongif0rm encephalopathy; chronic wasting disease of deer and elk; and kuru, both classical and variant Creutzfeldt-Jakob disease, Gerstmann-Straussler-Scheinker syndrome, and fatal familial insomnia, five rare diseases in humans.
This includes CJD, which has been caused accidentally by medical procedures, as well as Fatal Familial Insomnia (FFI) and Gerstmann-Straussler-Scheinker Syndrome (GSS), rare forms of human transmissible spongiform encephalopathy known to be caused by genetic mutations of the prion protein.
Of the inherited forms of prion diseases, Gerstmann-Straussler-Scheinker syndrome (GSS), familial Creutzfeldt-Jakob disease, and fatal familial insomnia make up a significant number of all cases in people who have an apparent hereditary predisposition to spongiform encephalopathies.
In humans, the prion diseases include CJD, Kuru, familial fatal insomnia (FFI) and Gerstmann-Straussler-Scheinker syndrome (GSS).
A gene-targeted mouse model of P102L Gerstmann-Straussler-Scheinker syndrome.
A second genetic disorder, Gerstmann-Straussler-Scheinker syndrome, occurs much more rarely.
The identification of a low-MW fragment cleaved at both C- and N-terminal ends of the prion protein has even been described as the hallmark of Gerstmann-Straussler-Scheinker syndrome in humans (2,21-24).