1,594
Views
9
CrossRef citations to date
0
Altmetric
Case Reports

Familial Creutzfeldt-Jakob Disease: Case report and role of genetic counseling in post mortem testing

, , , , , & show all
Pages 502-506 | Received 19 Jul 2016, Accepted 21 Oct 2016, Published online: 08 Dec 2016

REFERENCES

  • National Library of Medicine (US). Genetics home reference [Internet]. Cystic fibrosis; [reviewed 2012 Aug; cited 2013 Sep 19]. Bethesda, MD: The Library; 2013 Sep 16. Available from: https://ghr.nlm.nih.gov/gene/PRNP
  • Mastrianni JA. Genetic prion diseases. In GeneReviews(®), edited by Roberta A. Pagon, Margaret P. Adam, Holly H. Ardinger, Stephanie E. Wallace, Anne Amemiya, Lora JH Bean, Thomas D. Bird, et al. Seattle (WA): University of Washington, Seattle, 2014. http://www.ncbi.nlm.nih.gov/books/NBK1229/.
  • Mead S, Webb TEF, Campbell TA, Beck J, Linehan JM, Rutherfoord S, Joiner S, Wadsworth JD, Heckmann J, Wroe S, et al. Inherited prion disease with 5-OPRI: Phenotype modification by repeat length and codon 129. Neurology 2007; 69(8): 730-738; PMID:17709704; http://dx.doi.org/10.1212/01.wnl.0000267642.41594.9d
  • NHGRI “Genetic Information Nondiscrimination Act of 2008.” Reviewed March 16, 2012 http://www.genome.gov/24519851. http://www.genome.gov/24519851
  • Minikel EV, Vallabh SM, Lek M, Estrada K, Samocha KE, Sathirapongsasuti JF, McLean CY, Tung JY, Yu LP, Gambetti P, et al. Quantifying prion disease penetrance using large population control cohorts. Sci Transl Med 2016; 8(322):322ra9; PMID:26791950; http://dx.doi.org/10.1126/scitranslmed.aad5169
  • Rossi G, Giaccone G, Giampaolo L, Iussich S, Puoti G, Frigo M, Cavaletti G, Frattola L, Bugiani O, Tagliavini F. Creutzfeldt–jakob disease with a novel four extra-repeat insertional mutation in the PrP gene. Neurology 2000; 55(3): 405-10; http://dx.doi.org/10.1212/WNL.55.3.405
  • Windl O., Giese A, Schulz-Schaeffer W, Zerr I, Skworc K, Arendt S, Oberdieck C, Bodemer M, Poser S, Kretzschmar HA. Molecular genetics of human prion diseases in Germany. Hum Genet 1999; 105(3):244-52; http://dx.doi.org/10.1007/s004390051096
  • Roberts JS, Uhlmann WR. . Genetic susceptibility testing for neurodegenerative diseases: Ethical and practice issues. Prog Neurobiol 2013; 110:89-101; http://dx.doi.org/10.1016/j.pneurobio.2013.02.005

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.