Associated Papers
The L108I polymorphism in mouse prion protein drives spontaneous disease and enhances transmission of atypical and classical prion strains.
Eraña H et al.
Brain Pathology (zurich, Switzerland), 2026
Genetic causes and modifiers of prion diseases.
Mead S et al.
The Lancet. Neurology, 2026
Expert commentary: Teaching points from A young patient with spastic paraparesis and ataxia due to P102L GSS.
Ganguly J et al.
Parkinsonism & Related Disorders, 2026
Overexpression of bank vole PrP(I109) in mice induces a spontaneous atypical prion disease with sex-dependent onset, early NfL elevation, and universal prion strain permissiveness.
Eraña H et al.
Acta Neuropathologica Communications, 2026
Genetic Creutzfeldt-Jakob disease linked to the E200K mutation: a large cohort study.
Appleby BS et al.
Acta Neuropathologica, 2026
Molecular Mechanisms and Therapeutic Potential of Degron-Mediated Proteostasis Regulation in Neurodegenerative Diseases.
Nishanth DS et al.
Cellular and Molecular Neurobiology, 2026
M232R Familial Creutzfeldt-Jacob Disease Challenging to Diagnose Due to the Absence of Characteristic Laboratory Findings.
Tanaka Y et al.
Internal Medicine (tokyo, Japan), 2026
Ophthalmological abnormalities observed in two patients with Gerstmann-Sträussler-Scheinker disease.
Fujioka S et al.
Neurologia I Neurochirurgia Polska, 2026
Gerstmann-Sträussler-Scheinker disease mimicking primary progressive multiple sclerosis: A case with positive oligoclonal bands.
Ito M et al.
Multiple Sclerosis (houndmills, Basingstoke, England), 2025
Gerstmann-Sträussler-Scheinker syndrome neuropathology in a Creutzfeldt-Jakob disease-like phenotype patient caused by a novel 6-OPRI sequence in the PRNP gene.
Sýkora M et al.
Revue Neurologique, 2025
Psychiatric presentation of Gerstmann-Sträussler-Scheinker disease with 9-OPRI mutation in PRNP gene: a case report.
Atil ES et al.
Journal of Medical Case Reports, 2025
Canadian 2021 H-type Bovine Spongiform Encephalopathy case associated with a novel E211K polymorphism in prion protein gene.
Tahir W et al.
Prion, 2025
Differential pathology of P102L-associated Gerstmann-Stäussler-Scheinker disease: exclusive presence of 8-kDa protease-resistant prion protein vs. co-existence of 8-kDa and type-1 protease-resistant prion protein, with a focus on codon 129 polymorphism.
Noguchi H et al.
Prion, 2025
Parkinsonism in Gerstmann-Sträussler-Scheinker disease: A case report.
Poveda S et al.
Eneurologicalsci, 2025
Phenotypic heterogeneity in P102L Gerstmann-Sträussler-Scheinker disease: A case of spastic paraparesis with ataxia.
Salinas-Barboza K et al.
Parkinsonism & Related Disorders, 2025
Mortality of individuals with antemortem genetic testing for PRNP variants in the United States, 1998-2024.
Lian Y et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Substitution of histidine 95 by tyrosine in the prion protein causes spontaneous neurodegeneration in transgenic mice.
Torres JM et al.
Plos Pathogens, 2025
A Novel PRNP Gene Mutation Associated with Gerstmann-Sträussler-Scheinker Syndrome.
Bakolas A et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2025
Clinical phenotype associated with A118V mutation of PRPN gene.
Giannelli T et al.
Journal of Neurology, 2025
Diagnostic Spectrum in an "Atypical" Atypical Parkinsonism Syndrome Cohort: A Single Center Experience.
Katragadda P et al.
Journal of Movement Disorders, 2025
PrP C -induced signaling in human neurons activates phospholipase Cɣ1 and an Arc/Arg3.1 response.
Ojeda-Juarez D et al.
Biorxiv : the Preprint Server for Biology, 2025
PRNP E146G mutation inherited prion disease: distinctive clinical, pathological and fluid biomarker features.
Coysh T et al.
Journal of Neurology, 2025
The novel T107I Inherited prion disease can present as a clinical and biomarker mimic of familial Alzheimer's disease.
Holm-Mercer L et al.
Journal of Neurogenetics, 2025
Involvement of the nigrostriatal system in Gerstman-Sträussler-Scheinker disease with the PRNP-P102L mutation.
Ono N et al.
Journal of the Neurological Sciences, 2024
Convergent generation of atypical prions in knockin mouse models of genetic prion disease.
Mehra S et al.
The Journal of Clinical Investigation, 2024
Neuropathologically directed profiling of PRNP somatic and germline variants in sporadic human prion disease.
McDonough GA et al.
Acta Neuropathologica, 2024
Fluid Biomarkers in Individuals at Risk for Genetic Prion Disease up to Disease Conversion.
Vallabh SM et al.
Neurology, 2024
Neuropathologically-directed profiling of PRNP somatic and germline variants in sporadic human prion disease.
McDonough GA et al.
Biorxiv : the Preprint Server for Biology, 2024
Genetic and pathological features encipher the phenotypic heterogeneity of Gerstmann-Sträussler-Scheinker disease.
Chen Z et al.
Neurobiology of Disease, 2024
Accumulation Area of a Japanese PRNP P102L Variant Associated With Gerstmann-Sträussler-Scheinker Disease: The Ariake PRNP P102L Variant.
Suzuyama K et al.
Journal of Clinical Neurology (seoul, Korea), 2024
Gerstmann-Sträussler-Scheinker Disease Presenting as Late-Onset Slowly Progressive Spinocerebellar Ataxia, and Comparative Case Series with Neuropathology.
Stephen CD et al.
Movement Disorders Clinical Practice, 2024
Enhanced Creutzfeldt-Jakob disease surveillance in the older population: Assessment of a protocol for screening brain tissue donations for prion disease.
Peden AH et al.
Brain Pathology (zurich, Switzerland), 2024
Dystonia and Parkinsonism in COA7-related disorders: expanding the phenotypic spectrum.
Higuchi Y et al.
Journal of Neurology, 2024
The first meta-analysis of the G96S single nucleotide polymorphism (SNP) of the prion protein gene (PRNP) with chronic wasting disease in white-tailed deer.
Won SY et al.
Frontiers in Veterinary Science, 2024
Biomarker changes preceding symptom onset in genetic prion disease.
Vallabh SM et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
A family with mental disorder as the first symptom finally confirmed with Gerstmann-Sträussler-Scheinker disease with P102L mutation in PRNP gene - case report.
Chen Z et al.
Prion, 2023
Hyaline protoplasmic astrocytopathy in epilepsy.
Magaki S et al.
Neuropathology : Official Journal of the Japanese Society of Neuropathology, 2023
Serial changes in regional cerebral blood flow in Gerstmann-Sträussler-Scheinker disease caused by a Pro-to-Leu mutation at codon 105 in the prion protein gene.
Kawai H et al.
Prion, 2023
Prospective 25-year surveillance of prion diseases in France, 1992 to 2016: a slow waning of epidemics and an increase in observed sporadic forms.
Denouel A et al.
Euro Surveillance : Bulletin Europeen Sur Les Maladies Transmissibles = European Communicable Disease Bulletin, 2023
Spontaneous prion disease in homozygous and heterozygous transgenic mouse models of T188K genetic Creutzfeldt-Jakob disease.
Wu YZ et al.
Neurobiology of Aging, 2023
NGS study in a sicilian case series with a genetic diagnosis for Gerstmann-Sträussler-Scheinker syndrome (PRNP, p.P102L).
Salemi M et al.
Molecular Biology Reports, 2023
Altered properties of amyloidogenic prion protein in genetic Creutzfeldt-Jakob disease with PRNP V180I mutation in response to pentosan polysulfate.
Shijo M et al.
Brain Pathology (zurich, Switzerland), 2023
Seed amplification and neurodegeneration marker trajectories in individuals at risk of prion disease.
Mok TH et al.
Brain : a Journal of Neurology, 2023
Hypothesis: functional age and onset of autosomal dominant genetic prion disease.
Bordonaro M
Theory in Biosciences = Theorie in Den Biowissenschaften, 2023
Genetic Movement Disorders Commonly Seen in Asians.
Jagota P et al.
Movement Disorders Clinical Practice, 2023
Association of RNF213 polymorphism and cortical hyperintensity sign on fluid-attenuated inversion recovery images after revascularization surgery for moyamoya disease: Correspondence.
Kleebayoon A et al.
Neurosurgical Review, 2023
Gerstmann-Sträussler-Scheinker Disease: A Case Report.
Shin M et al.
Journal of the Korean Society of Radiology, 2023