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:

Networked: 26 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Related Diseases

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

Experts

1.	Kitamoto, T: 4 articles (03/2005 - 07/2000)
2.	Jahandideh, Samad: 2 articles (01/2014 - 10/2011)
3.	Zhi, Degui: 1 article (01/2014)
4.	Srajan, Jain: 1 article (01/2013)
5.	Rajasekaran, R: 1 article (01/2013)
6.	Nagasundaram, N: 1 article (01/2013)
7.	Rajith, B: 1 article (01/2013)
8.	Debajyoti, C: 1 article (01/2013)
9.	Doss, C George Priya: 1 article (01/2013)
10.	Asadabadi, Ebrahim Barzegari: 1 article (10/2011)

Drugs and Biologics

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

1.	Amyloid (Amyloid Fibrils)IBA 11/28/2003 - "Structural properties of Gerstmann-Straussler-Scheinker disease amyloid protein." 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. " 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. " 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. " 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. "
2.	PrionsIBA 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). " 10/01/2010 - "Misfolding and aggregation of prion proteins is linked to a number of neurodegenerative disorders such as Creutzfeldt-Jacob disease (CJD) and its variants: Kuru, Gerstmann-Straussler-Scheinker syndrome and fatal familial insomnia. " 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. " 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. "
3.	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. " 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. "
4.	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. "
5.	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."
6.	N-Acetylneuraminic Acid (Sialic Acid)IBA 12/01/2004 - "In competition assays, pretreatment of neurons with partial GPIs, inositol monophosphate or sialic acid reduced the production of prostaglandin E(2) in response to a synthetic miniprion (sPrP106), a synthetic correlate of a PrP(Sc) species found in Gerstmann-Straussler-Scheinker disease (HuPrP82-146), prion preparations or high concentrations of PrP-GPIs. "
7.	AmberIBA 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. "
8.	PrP 27-30 ProteinIBA 07/18/1986 - "A human complementary DNA whose protein product is considered to be the major component of scrapie-associated fibrils in Creutzfeldt-Jakob disease, kuru, and Gerstmann-Straussler syndrome has been identified and characterized. "
9.	Complementary DNA (cDNA)IBA 07/18/1986 - "A human complementary DNA whose protein product is considered to be the major component of scrapie-associated fibrils in Creutzfeldt-Jakob disease, kuru, and Gerstmann-Straussler syndrome has been identified and characterized. "
10.	Amyloid beta-Protein Precursor (Amyloid Protein Precursor)IBA 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). "

Therapies and Procedures

1.	Transplants (Transplant) 03/01/2005 - "Eight patients with prion diseases were examined: three with sporadic Creutzfeldt-Jakob disease (sCJD), two with dural graft associated CJD (dCJD), one with Gerstmann-Straussler-Scheinker disease (GSS) with a PrP P102L mutation (GSS102), and two with a P105L mutation (GSS105). "