ArticleAlzheimer's research & therapy2021
Homozygous R136S mutation in PRNP gene causes inherited early onset prion disease.
Article in Alzheimer's research & therapy, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed, 15 citations in OpenAlex.
- Chronic traumatic encephalopathy in a neuropathologically confirmed Creutzfeldt-Jakob disease cohort.Brain pathology (Zurich, Switzerland) · 2026Article
- Alpha-synuclein co-pathology in Down syndrome-associated Alzheimer's disease.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2025Article
- National Creutzfeldt-Jakob disease research biobank, a novel approach to the establishment of the scientific platform: collaboration between patient advocacy group, scientists, regulators and physicians.Orphanet journal of rare diseases · 2025Article
- RTP801 interacts with the tRNA ligase complex and dysregulates its RNA ligase activity in Alzheimer's disease.Nucleic acids research · 2024Article
- Uncovering tau in wasteosomes (Frontiers in aging neuroscience · 2023Article
- Prion Mutations in Republic of Republic of Korea, China, and Japan.International journal of molecular sciences · 2022Review
- How phosphorylation impacts intrinsically disordered proteins and their function.Essays in biochemistry · 2022Article
- Bona fide atypical scrapie faithfully reproduced for the first time in a rodent model.Acta neuropathologica communications · 2022Article
- Review
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18 authors at 9 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundMore than 40 pathogenic heterozygous PRNP mutations causing inherited prion diseases have been identified to date. Recessive inherited prion disease has not been described to date.
methodsWe describe the clinical and neuropathological data of inherited early-onset prion disease caused by the rare PRNP homozygous mutation R136S. In vitro PrP
resultsThe index case presented symptoms of early-onset dementia beginning at the age of 49 and died at the age of 53. Neuropathological evaluation of the proband revealed abundant multicentric PrP plaques and Western blotting revealed a ~ 8 kDa protease-resistant, unglycosylated PrP
conclusionIn conclusion, biallelic R136S substitution is a rare variant that produces inherited early-onset human prion disease with a Gerstmann-Sträussler-Scheinker neuropathological and molecular signature. Even if the R136S variant is predicted to be "probably damaging", heterozygous carriers are protected, at least from an early onset providing evidence for a potentially recessive pattern of inheritance in human prion diseases.
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