Gerstmann-Straussler-Scheinker Disease

An autosomal dominant familial prion disease with a wide spectrum of clinical presentations including ATAXIA, spastic paraparesis, extrapyramidal signs, and DEMENTIA. Clinical onset is in the third to sixth decade of life and the mean duration of illness prior to death is five years. Several kindreds with variable clinical and pathologic features have been described. Pathologic features include cerebral prion protein amyloidosis, and spongiform or neurofibrillary degeneration. (From Brain Pathol 1998 Jul;8(3):499-513; Brain Pathol 1995 Jan;5(1):61-75)

Also Known As:

Encephalopathy, Subacute Spongiform, Gerstmann-Straussler Type; Gerstmann-Straussler Disease; Gerstmann-Straussler Inherited Spongiform Encephalopathy; Gerstmann-Straussler-Scheinker Syndrome; Inherited Spongiform Encephalopathy, Gerstmann-Straussler; Disease, Gerstmann-Straussler; Diseases, Gerstmann-Straussler; Gerstmann Straussler Disease; Gerstmann Straussler Inherited Spongiform Encephalopathy; Gerstmann Straussler Scheinker Disease; Gerstmann Straussler Scheinker Syndrome; Gerstmann Straussler Syndrome; Gerstmann-Straussler Diseases; Inherited Spongiform Encephalopathy, Gerstmann Straussler; Gerstmann-Straussler Syndrome

Networked: 51 relevant articles (0 outcomes, 1 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Neurodegenerative Diseases (Neurodegenerative Disease)
2.	Sporadic Creutzfeldt-Jakob Disease
3.	Creutzfeldt-Jakob Syndrome (Creutzfeldt-Jakob Disease)
4.	Fatal Familial Insomnia
5.	Prion Diseases (Transmissible Spongiform Encephalopathies)

Experts

1.	Kitamoto, T: 3 articles (12/2001 - 07/2000)
2.	Jahandideh, Samad: 2 articles (01/2014 - 10/2011)
3.	Bose, Sharmila: 2 articles (01/2007 - 07/2002)
4.	Gu, Yaping: 2 articles (01/2007 - 07/2002)
5.	Singh, Neena: 2 articles (01/2007 - 07/2002)
6.	Verghese, Susamma: 2 articles (01/2007 - 07/2002)
7.	Surewicz, Witold K: 2 articles (09/2006 - 12/2002)
8.	Brandel, J-P: 1 article (02/2022)
9.	Harris, David A: 1 article (01/2020)
10.	Kim, So Young: 1 article (01/2020)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Gerstmann-Straussler-Scheinker Disease:

1.	PrionsIBA 01/01/2011 - "This study provides evidence of upregulation of miRNA-146a in extremely rare (incidence 1-10 per 100 million) human prion-based neurodegenerative disorders, including sporadic Creutzfeldt-Jakob disease (sCJD) and Gerstmann-Straussler-Scheinker syndrome (GSS). " 01/01/2019 - "Gerstmann-Straussler-Scheinker disease (GSS), an autosomal dominant prion disorder, usually presents as a slowly progressive cerebellar ataxia followed by later cognitive decline. " 01/01/1997 - "We discussed various forms of Creutzfeldt-Jakob disease (classical, iatrogenic, atypical forms) in detail, but also other diseases connected with pathogenic effects of prions (Gerstmann-Straussler-Scheinker Syndrome (GSS), fatal familial insomnia etc.). " 08/15/2002 - "Infectious pathogens in cadavers that present particular risks include Mycobacterium tuberculosis, hepatitis B and C, the AIDS virus HIV, and prions that cause transmissible spongiform encephalopathies such as Creutzfeldt-Jakob disease (CJD) and Gerstmann-Straussler-Scheinker syndrome (GSS). " 10/01/1998 - "It is believed by many that prions cause sporatic and genetic neurodegenerative diseases, including scrapie and bovine spongiform encephalopathy in animals and kuru, fatal familial insomnia, Creutzfeldt-Jakob disease (CJD) and Gerstmann-Straussler-Scheinker disease in humans. "
2.	Prion ProteinsIBA 02/01/2011 - "Gerstmann-Straussler-Scheinker disease due to a novel prion protein gene mutation." 01/01/2008 - "The N-terminal 'unstructured' region of the human prion protein [PrP((90-231))] is believed to play a role in its aggregation because mutations in this region are associated with seeding-independent deposition disorders like Gerstmann-Straussler-Scheinker disease (GSS). " 03/01/2006 - "Prion protein fragments that are extracted from the brains of patients with Gerstmann-Straussler-Scheinker disease are known to have stimulating action on circulating leukocytes. " 07/05/2002 - "Cell surface accumulation of a truncated transmembrane prion protein in Gerstmann-Straussler-Scheinker disease P102L." 12/13/2002 - "To gain insight into the molecular basis of hereditary spongiform encephalopathies, we have characterized the biophysical properties of the recombinant human prion protein variant containing the mutation (Phe(198) --> Ser) associated with familial Gerstmann-Straussler-Scheinker disease. "
3.	Proteins (Proteins, Gene)FDA Link 09/06/2006 - "A similar three-state folding behavior was observed for the Gerstmann-Straussler-Scheinker disease-associated F198S mutant, in which case the population of an intermediate was greatly increased as compared to that of the wild-type protein. " 10/17/2008 - "Genetic Creutzfeldt-Jakob diseases, in which mutations in the PRNP gene predispose to disease by causing the expression of abnormal PrP protein, include familial Creutzfeldt-Jakob disease, Gerstmann-Straussler-Scheinker syndrome and fatal familial insomnia. " 01/01/2017 - "In addition, oxidative stress causing protein misfold may turn to other NDDs include Creutzfeldt-Jakob disease, Bovine Spongiform Encephalopathy, Kuru, Gerstmann-Straussler-Scheinker syndrome, and Fatal Familial Insomnia. " 02/01/2022 - "They remain an exciting research model because they belong both to the group of neurodegenerative diseases with protein accumulation (sporadic CJD), to the group of communicable diseases (iatrogenic CJD, variant of CJD) but also to the group of genetic diseases with a transmission Mendelian dominant (genetic CJD, Gerstmann-Straussler-Scheinker syndrome, fatal familial insomnia)." 12/01/1997 - "The small group of prion diseases, caused by accumulation in the brain of an abnormal protein characterized by its aggregation and relative resistance to proteases (the PrPSc) in man is comprised of Creutzfeldt-Jacob disease (CJE), the Gerstmann-Straussler-Scheinker syndrome, kuru and the newest addition which is fatal familial insomnia (FFI). "
4.	Peptide Hydrolases (Proteases)FDA Link 01/01/2019 - "There are three main groups of prion diseases, termed sporadic (Creutzfeldt-Jakob disease [CJD], sporadic fatal insomnia, and variably protease-sensitive prionopathy), genetic (genetic CJD, fatal familial insomnia, and Gerstmann-Straussler-Scheinker syndrome), and acquired (kuru, variant CJD, and iatrogenic CJD). " 01/01/2018 - "The following clinical forms are known: Creutzfeldt-Jakob disease (common type), variant Creutzfeldt-Jakob disease, Gerstmann-Straussler-Scheinker disease, variably protease-sensitive prionopathy, fatal insomnia and fatal familial insomnia, kuru, prion disease associated with diarrhea and autonomic neuropathy. " 01/01/2006 - "Western blot analysis revealed a protease-resistant prion protein fragment (PrP7-8), the molecular hallmark of Gerstmann-Straussler-Scheinker disease." 12/01/1997 - "The small group of prion diseases, caused by accumulation in the brain of an abnormal protein characterized by its aggregation and relative resistance to proteases (the PrPSc) in man is comprised of Creutzfeldt-Jacob disease (CJE), the Gerstmann-Straussler-Scheinker syndrome, kuru and the newest addition which is fatal familial insomnia (FFI). " 04/01/1994 - "These clones expressed the abnormal protease-resistant form of prion protein (PrP), which is believed to mediate brain degeneration in animals with scrapie and bovine spongiform encephalopathy and in humans with kuru, Creutzfeldt-Jakob disease, and Gerstmann-Straussler-Scheinker syndrome. "
5.	Codon (Codons)IBA 12/01/2001 - "The fragmented PrP was detected in patients with classic-type CJD, sporadic thalamic-type CJD, familial CJD with codon 200 or 232 mutation, or familial Gerstmann-Straussler syndrome (GSS) with codon 102 mutation. " 03/01/2023 - "EK heterozygotes at codon 219, versus EE homozygotes, showed a preventive effect on the extensive prion diseases-sCJD, genetic CJD (gCJD) with V180I or M232R mutation, and Gerstmann-Straussler-Scheinker disease with P102L mutation. " 09/01/1991 - "We also tested for the APP codon 693 mutation associated with hereditary cerebral hemorrhage with amyloidosis-Dutch type, for PRIP gene missense mutations at codons 102, 117, and 200, and for the PRIP insertion mutations which are associated with Creutzfeld-Jakob disease and Gerstmann-Straussler Scheinker syndrome. " 02/18/2005 - "A pathogenic truncation of an amber mutation at codon 145 (Y145STOP) in Gerstmann-Straussler-Scheinker disease (GSS) was investigated through the real-time imaging in living cells, by utilizing GFP-PrP constructs. " 09/01/1995 - "We have constructed mice bearing the codon 101 proline to leucine substitution linked to the human familial prion disease, Gerstmann-Straussler-Scheinker syndrome. "
6.	Amyloid (Amyloid Fibrils)IBA 08/03/1985 - "Marmosets inoculated intracerebrally with brain tissue from a woman with Gerstmann-Straussler syndrome (an autosomal dominant dementia associated with spongiform change and amyloid deposition) developed an encephalopathy indistinguishable from that seen in marmosets inoculated with brain tissue from a typical case of Creutzfeldt-Jakob disease. " 01/01/2014 - "Nonsynonymous mutations in the human prion protein (HuPrP) gene contribute to the conversion of HuPrP(C) to HuPrP(Sc) and amyloid formation which in turn leads to prion diseases such as familial Creutzfeldt-Jakob disease and Gerstmann-Straussler-Scheinker disease. " 01/01/2013 - "Polymorphisms in the human prion proteins lead to amino acid substitutions by the conversion of PrPC to PrPSc and amyloid formation, resulting in prion diseases such as familial Creutzfeldt-Jakob disease, Gerstmann-Straussler-Scheinker disease and fatal familial insomnia. " 10/01/2011 - "Point mutations in the human prion protein gene, leading to amino acid substitutions in the human prion protein contribute to conversion of PrPC to PrPSc and amyloid formation, resulting in prion diseases such as familial Creutzfeldt-Jakob disease (CJD), Gerstmann-Straussler-Scheinker disease (GSS), and fatal familial insomnia. " 12/01/1999 - "We are currently interested in a group of proteins associated with the dementias characterized by amyloid deposition in the brain: amyloid beta protein precursor (A beta PP) of Alzheimer's disease (AD) and the abnormal isoform of prion protein (PrP) of spongiform encephalopathies such as kuru, Creutzfeldt-Jacob disease (CJD) and Gerstmann-Straussler-Scheinker disease (GSSD). "
7.	alpha-SynucleinIBA 04/01/2004 - "Loci underlying autosomal dominant forms of most neurodegenerative disease have been identified: prion mutations cause Gerstmann Straussler syndrome and hereditary Creuzfeldt-Jakob disease, tau mutations cause autosomal dominant frontal temporal dementia, and alpha-synuclein mutations cause autosomal dominant Parkinson's disease. " 08/01/2005 - "Loci underlying autosomal dominant forms of most neurodegenerative disease have been identified: prion mutations cause Gerstmann Straussler syndrome and hereditary Creutzfeldt-Jakob disease, tau mutations cause autosomal dominant frontal temporal dementia and alpha-synuclein mutations cause autosomal dominant Parkinson's disease. "
8.	Protein Isoforms (Isoforms)IBA 11/01/2010 - "The phenotypic and strain-related properties of human prion diseases are, according to the prion hypothesis, proposed to reside in the physicochemical properties of the conformationally altered, disease-associated isoform of the prion protein (PrP(Sc)), which accumulates in the brains of patients suffering from Creutzfeldt-Jakob disease and related conditions, such as Gerstmann-Straussler-Scheinker disease. " 12/01/1999 - "We are currently interested in a group of proteins associated with the dementias characterized by amyloid deposition in the brain: amyloid beta protein precursor (A beta PP) of Alzheimer's disease (AD) and the abnormal isoform of prion protein (PrP) of spongiform encephalopathies such as kuru, Creutzfeldt-Jacob disease (CJD) and Gerstmann-Straussler-Scheinker disease (GSSD). "
9.	Amyloidogenic ProteinsIBA 11/28/2003 - "Structural properties of Gerstmann-Straussler-Scheinker disease amyloid protein."
10.	Heparan Sulfate Proteoglycans (Heparan Sulfate Proteoglycan)IBA 11/01/1990 - "The current investigation used immunocytochemical techniques to identify and localize heparan sulfate proteoglycans (HSPGs) in human cases of Gerstmann-Straussler syndrome and Creutzfeldt-Jakob disease, as well as in experimental scrapie of hamsters. " 11/01/1990 - "Immunolocalization of heparan sulfate proteoglycans to the prion protein amyloid plaques of Gerstmann-Straussler syndrome, Creutzfeldt-Jakob disease and scrapie."