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Pooled analysis of patients with inherited prion disease caused by two- to twelve-octapeptide repeat insertions in the prion protein gene (PRNP)

Astrid Van den broecke, Alexander Decruyenaere (UGent) , Nika Schuermans (UGent) , Hannah Verdin (UGent) , Jody Ghijsels (UGent) , Anne Sieben, Bart Dermaut (UGent) and Dimitri Hemelsoet (UGent)
(2024) JOURNAL OF NEUROLOGY. 271. p.263-273
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Abstract
Inherited prion diseases caused by two- to twelve-octapeptide repeat insertions (OPRIs) in the prion protein gene (PRNP) show significant clinical heterogeneity. This study describes a family with two new cases with a 4-OPRI mutation and two asymptomatic mutation carriers. The pooled analysis summarizes all cases reported in the literature to date and describes the relation between survival, age of onset, number of OPRI and codon 129 polymorphism. MEDLINE and Google Scholar were queried from database inception up to December 31, 2022. Age of onset was compared per number of OPRI and per codon 129 polymorphism using the Kruskal-Wallis and Wilcoxon-Mann-Whitney tests, respectively. Disease duration was modeled non-parametrically by a Kaplan-Meier model and semi-parametrically by a Cox model. This study comprised 164 patients. Lower number of OPRI and presence of valine (cis-V) versus methionine (cis-M) on codon 129 were associated with an older age of onset (P < 0.001 and P = 0.025, respectively) and shorter disease duration (P < 0.001 and P = 0.003, respectively). Within patients with 5- or more OPRI codon cis-V remained significantly associated with a shorter disease duration. Codon 129 homozygosity versus heterozygosity was not significantly associated with age of onset or disease duration (P = 0.076 and P = 0.409, respectively). This study summarized the largest cohort of patients with two- to twelve-OPRI to date. Lower number of OPRI and codon 129 cis-V is associated with an older age of onset and shorter disease duration, while homozygosity or heterozygosity on codon 129 was not.
Keywords
Neurology (clinical), Neurology, Genetics, Octapeptide repeat insertion, Gerstmann-Straussler-Scheinker syndrome, Creutzfeldt-Jakob disease, Prion disease

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MLA
Van den broecke, Astrid, et al. “Pooled Analysis of Patients with Inherited Prion Disease Caused by Two- to Twelve-Octapeptide Repeat Insertions in the Prion Protein Gene (PRNP).” JOURNAL OF NEUROLOGY, vol. 271, Springer Science and Business Media LLC, 2024, pp. 263–73, doi:10.1007/s00415-023-11968-9.
APA
Van den broecke, A., Decruyenaere, A., Schuermans, N., Verdin, H., Ghijsels, J., Sieben, A., … Hemelsoet, D. (2024). Pooled analysis of patients with inherited prion disease caused by two- to twelve-octapeptide repeat insertions in the prion protein gene (PRNP). JOURNAL OF NEUROLOGY, 271, 263–273. https://doi.org/10.1007/s00415-023-11968-9
Chicago author-date
Van den broecke, Astrid, Alexander Decruyenaere, Nika Schuermans, Hannah Verdin, Jody Ghijsels, Anne Sieben, Bart Dermaut, and Dimitri Hemelsoet. 2024. “Pooled Analysis of Patients with Inherited Prion Disease Caused by Two- to Twelve-Octapeptide Repeat Insertions in the Prion Protein Gene (PRNP).” JOURNAL OF NEUROLOGY 271: 263–73. https://doi.org/10.1007/s00415-023-11968-9.
Chicago author-date (all authors)
Van den broecke, Astrid, Alexander Decruyenaere, Nika Schuermans, Hannah Verdin, Jody Ghijsels, Anne Sieben, Bart Dermaut, and Dimitri Hemelsoet. 2024. “Pooled Analysis of Patients with Inherited Prion Disease Caused by Two- to Twelve-Octapeptide Repeat Insertions in the Prion Protein Gene (PRNP).” JOURNAL OF NEUROLOGY 271: 263–273. doi:10.1007/s00415-023-11968-9.
Vancouver
1.
Van den broecke A, Decruyenaere A, Schuermans N, Verdin H, Ghijsels J, Sieben A, et al. Pooled analysis of patients with inherited prion disease caused by two- to twelve-octapeptide repeat insertions in the prion protein gene (PRNP). JOURNAL OF NEUROLOGY. 2024;271:263–73.
IEEE
[1]
A. Van den broecke et al., “Pooled analysis of patients with inherited prion disease caused by two- to twelve-octapeptide repeat insertions in the prion protein gene (PRNP),” JOURNAL OF NEUROLOGY, vol. 271, pp. 263–273, 2024.
@article{01HFC2TCPPQXNYPG5P5Y4DQA0W,
  abstract     = {{Inherited prion diseases caused by two- to twelve-octapeptide repeat insertions (OPRIs) in the prion protein gene (PRNP) show significant clinical heterogeneity. This study describes a family with two new cases with a 4-OPRI mutation and two asymptomatic mutation carriers. The pooled analysis summarizes all cases reported in the literature to date and describes the relation between survival, age of onset, number of OPRI and codon 129 polymorphism. MEDLINE and Google Scholar were queried from database inception up to December 31, 2022. Age of onset was compared per number of OPRI and per codon 129 polymorphism using the Kruskal-Wallis and Wilcoxon-Mann-Whitney tests, respectively. Disease duration was modeled non-parametrically by a Kaplan-Meier model and semi-parametrically by a Cox model. This study comprised 164 patients. Lower number of OPRI and presence of valine (cis-V) versus methionine (cis-M) on codon 129 were associated with an older age of onset (P < 0.001 and P = 0.025, respectively) and shorter disease duration (P < 0.001 and P = 0.003, respectively). Within patients with 5- or more OPRI codon cis-V remained significantly associated with a shorter disease duration. Codon 129 homozygosity versus heterozygosity was not significantly associated with age of onset or disease duration (P = 0.076 and P = 0.409, respectively). This study summarized the largest cohort of patients with two- to twelve-OPRI to date. Lower number of OPRI and codon 129 cis-V is associated with an older age of onset and shorter disease duration, while homozygosity or heterozygosity on codon 129 was not.}},
  author       = {{Van den broecke, Astrid and Decruyenaere, Alexander and Schuermans, Nika and Verdin, Hannah and Ghijsels, Jody and Sieben, Anne and Dermaut, Bart and Hemelsoet, Dimitri}},
  issn         = {{0340-5354}},
  journal      = {{JOURNAL OF NEUROLOGY}},
  keywords     = {{Neurology (clinical),Neurology,Genetics,Octapeptide repeat insertion,Gerstmann-Straussler-Scheinker syndrome,Creutzfeldt-Jakob disease,Prion disease}},
  language     = {{eng}},
  pages        = {{263--273}},
  publisher    = {{Springer Science and Business Media LLC}},
  title        = {{Pooled analysis of patients with inherited prion disease caused by two- to twelve-octapeptide repeat insertions in the prion protein gene (PRNP)}},
  url          = {{http://doi.org/10.1007/s00415-023-11968-9}},
  volume       = {{271}},
  year         = {{2024}},
}
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