Varaico: Literature-Extracted Genetic Variants

Gene:PRNP
Variant:p.E211D
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PRNP

NM_000311.5:p.E211D

Associated Papers

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

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

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

38099349 (PubMed )
Supplement: 23-00101_DENOUEL_Supplement.pdf

Genetic Factors in Mammalian Prion Diseases.

Mead S et al.

Annual Review of Genetics, 2019

Analysis of 12 Chinese Patients with Proline-to-Leucine Mutation at Codon 102-Associated Gerstmann-Sträussler-Scheinker Disease.

Wang J et al.

Journal of Clinical Neurology (seoul, Korea), 2019

Recent advances in the histo-molecular pathology of human prion disease.

Baiardi S et al.

Brain Pathology (zurich, Switzerland), 2019

Genetic PrP Prion Diseases.

Kim MO et al.

Cold Spring Harbor Perspectives in Biology, 2018

Genetic Creutzfeldt-Jakob disease.

Ladogana A et al.

Handbook of Clinical Neurology, 2018

Dominantly inherited prion protein cerebral amyloidoses - a modern view of Gerstmann-Sträussler-Scheinker.

Ghetti B et al.

Handbook of Clinical Neurology, 2018

Experimental Models of Inherited PrP Prion Diseases.

Watts JC et al.

Cold Spring Harbor Perspectives in Medicine, 2017

Genetic prion disease: Experience of a rapidly progressive dementia center in the United States and a review of the literature.

Takada LT et al.

American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2017

Substitutions at residue 211 in the prion protein drive a switch between CJD and GSS syndrome, a new mechanism governing inherited neurodegenerative disorders.

Peoc'h K et al.

Human Molecular Genetics, 2012

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