ArticlePrion
Genotype-phenotype analysis in inherited prion disease with eight octapeptide repeat insertional mutation.
Article in Prion. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 21 citations in OpenAlex.
- Update on Genetic Chorea.European journal of neurology · 2025Review
- Human prion diseases and the prion protein - what is the current state of knowledge?Translational neuroscience · 2023Review
- Huntington's disease: lessons from prion disorders.Journal of neurology · 2021Article
- The importance of ongoing international surveillance for Creutzfeldt-Jakob disease.Nature reviews. Neurology · 2021Review
- Genetic ataxias: update on classification and diagnostic approaches.Current neurology and neuroscience reports · 2021Review
- Genetic testing in dementia - utility and clinical strategies.Nature reviews. Neurology · 2021Review
- Detection of tau in Gerstmann-Sträussler-Scheinker disease (PRNP F198S) by [Acta neuropathologica communications · 2018Article
- Novel Imaging Biomarkers for Huntington's Disease and Other Hereditary Choreas.Current neurology and neuroscience reports · 2018Review
- Genetic PrP Prion Diseases.Cold Spring Harbor perspectives in biology · 2018Review
- Diagnosis and treatment of chorea syndromes.Current neurology and neuroscience reports · 2015Review
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Authors and funding
6 authors at 5 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
A minority of inherited prion diseases (IPD) are caused by four to 12 extra octapeptide repeat insertions (OPRI) in the prion protein gene (PRNP). Only four families affected by IPD with 8-OPRI have been reported, one of them was a three-generation Swedish kindred in which four of seven affected subjects had chorea which was initially attributed to Huntington's disease (HD). Following the exclusion of HD, this phenotype was labeled Huntington disease-like 1 (HDL1). Here, we provide an update on the Swedish 8-OPRI family, describe the clinical features of one of its affected members with video-recordings, compare the four 8-OPRI families and study the effect of PRNP polymorphic codon 129 and gender on phenotype. Surprisingly, the Swedish kindred displayed the longest survival of all of the 8-OPRI families with a mean of 15.1 years from onset of symptoms. Subjects with PRNP polymorphic codon 129M in the mutated allele had significantly earlier age of onset, longer survival and earlier age of death than 129V subjects. Homozygous 129MM had earlier age of onset than 129VV. Females had a significantly earlier age of onset and earlier age of death than males. Up to 50% of variability in age of onset was conferred by the combined effect of PRNP polymorphic codon 129 and gender. An inverse correlation between early age of onset and long survival was found for this mutation.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.