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Four Octapeptide Repeat Insertion (4-OPRI) in PRNP Causing Huntington Disease Phenocopy

Published online by Cambridge University Press:  24 August 2023

Jacky Ganguly Open the ORCID record for Jacky Ganguly [Opens in a new window] ,
Mellany Tuesta Bernaola  and
Mandar Jog Open the ORCID record for Mandar Jog [Opens in a new window]
Jacky Ganguly
Affiliation:
Movement Disorder Centre, London Health Sciences Centre, The University of Western Ontario, London, ON, Canada
Mellany Tuesta Bernaola
Affiliation:
Movement Disorder Centre, London Health Sciences Centre, The University of Western Ontario, London, ON, Canada
Mandar Jog*
Affiliation:
Movement Disorder Centre, London Health Sciences Centre, The University of Western Ontario, London, ON, Canada
*
Corresponding author: M. Jog; Email: [email protected]
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Abstract

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Keywords

HD phenocopyPRNP4-OPRI
Type
Letter to the Editor: New Observation
Information
Canadian Journal of Neurological Sciences , Volume 51 , Issue 4 , July 2024 , pp. 598 - 600
Copyright
© The Author(s), 2023. Published by Cambridge University Press on behalf of Canadian Neurological Sciences Federation

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References

Schmitz, M, Dittmar, K, Llorens, F, et al. Hereditary human prion diseases: an update. Mol Neurobiol. 2017;54:4138–49. DOI: 10.1007/s12035-016-9918-y.CrossRefGoogle ScholarPubMed
Paucar, M, Xiang, F, Moore, R, Walker, RH, Winnberg, E, Svenningsson, P. Genotype-phenotype analysis in inherited prion disease with 8 octapeptide repeat insertional mutation. Prion. 2013;7:501–10. DOI: 10.4161/pri.27260.CrossRefGoogle ScholarPubMed
Areškevičiūtė, A, Høgh, P, Bartoletti-Stella, A, et al. A novel eight octapeptide repeat insertion in PRNP causing prion disease in a danish family. J Neuropathol Exp Neurol. 2019;78:595–604. DOI: 10.1093/jnen/nlz037.CrossRefGoogle Scholar
Kaski, DN, Pennington, C, Beck, J, et al. Inherited prion disease with 4-octapeptide repeat insertion: disease requires the interaction of multiple genetic risk factors. Brain. 2011;134:1829–1838. DOI: 10.1093/brain/awr079.CrossRefGoogle ScholarPubMed
Martin, NB, Koga, S, Appleby, BS, Sekiya, H, Dickson, DW. Creutzfeldt-jakob disease misdiagnosed as multiple system atrophy. Mov Disord Clin Pract. 2023;10:496–500. DOI: 10.1002/mdc3.13654.CrossRefGoogle ScholarPubMed
Brennecke, N, Cali, I, Mok, T, et al. Characterization of prion disease associated with a two-octapeptide repeat insertion. Viruses. 2021;13:1794. DOI: 10.3390/v13091794.CrossRefGoogle ScholarPubMed
Hamada, S, Takahashi-Iwata, I, Satoh, K, et al. Genetic creutzfeldt–Jakob disease with 5-octapeptide repeats presented as frontotemporal dementia. Hum Genome Var. 2023;10:10. DOI: 10.1038/s41439-023-00237-w.CrossRefGoogle ScholarPubMed
Mead, S, Poulter, M, Beck, J, et al. Inherited prion disease with six octapeptide repeat insertional mutation - molecular analysis of phenotypic heterogeneity. Brain. 2006;129:2297–2317. DOI: 10.1093/brain/awl226.CrossRefGoogle ScholarPubMed
Jansen, C, Voet, W, Head, MW, et al. A novel seven-octapeptide repeat insertion in the prion protein gene (PRNP) in a dutch pedigree with Gerstmann-sträussler-scheinker disease phenotype: comparison with similar cases from the literature. Acta Neuropathol. 2011;121:59–68. DOI: 10.1007/s00401-010-0656-3.CrossRefGoogle Scholar
Townley, RA, Polsinelli, AJ, Fields, JA, et al. Longitudinal clinical, neuropsychological, and neuroimaging characterization of a kindred with a 12-octapeptide repeat insertion in PRNP: the next generation. Neurocase. 2020;26:211–9. DOI: 10.1080/13554794.2020.1787458.CrossRefGoogle ScholarPubMed