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August 2020; 6 (4) Clinical/Scientific NotesOpen Access

A novel PRNP-G131R variant associated with familial prion disease

Jumana T. Alshaikh, Kefeng Qin, Lili Zhao, James A. Mastrianni
First published June 5, 2020, DOI: https://doi.org/10.1212/NXG.0000000000000454
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Roughly 40 autosomal dominant mutations of the prion protein gene (PRNP) cosegregate with familial Creutzfeldt-Jakob disease (CJD), fatal familial insomnia, or Gerstmann-Sträussler-Scheinker disease (GSS).1,2 Genetic prion disease in African Americans is rarely reported. We sequenced the PRNP coding segment of a 43-year-old African American woman with rapidly progressive dementia and a positive family history of early onset dementia not previously recognized as genetic prion disease.

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  • Go to Neurology.org/NG for full disclosures. Funding information is provided at the end of the article.

  • The Article Processing Charge was funded by Brain Research Foundation.

  • Go to Neurology.org/NG for full disclosures. Funding information is provided at the end of the article.

  • Received December 15, 2019.
  • Accepted in final form May 11, 2020.

This is an open access article distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivatives License 4.0 (CC BY-NC-ND), which permits downloading and sharing the work provided it is properly cited. The work cannot be changed in any way or used commercially without permission from the journal.

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