A novel prion disease associated with diarrhea and autonomic neuropathy

Mead, Simon, Gandhi, Sonia, Beck, Jon, Caine, Diana, Gajulapalli, Dilip, Gallujipali, Dillip, Carswell, Christopher, Hyare, Harpreet, Joiner, Susan, Ayling, Hilary, Lashley, Tammaryn, Linehan, Jacqueline M, Al-Doujaily, Huda, Sharps, Bernadette, Revesz, Tamas, Sandberg, Malin K, Reilly, Mary M, Koltzenburg, Martin, Forbes, Alastair, Rudge, Peter, Brandner, Sebastian, Warren, Jason D, Wadsworth, Jonathan D F, Wood, Nicholas W, Holton, Janice L and Collinge, John (2013) A novel prion disease associated with diarrhea and autonomic neuropathy. New England Journal of Medicine, 369 (20). pp. 1904-1914. ISSN 0028-4793

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Abstract

Human prion diseases, although variable in clinicopathological phenotype, generally present as neurologic or neuropsychiatric conditions associated with rapid multifocal central nervous system degeneration that is usually dominated by dementia and cerebellar ataxia. Approximately 15% of cases of recognized prion disease are inherited and associated with coding mutations in the gene encoding prion protein (PRNP). The availability of genetic diagnosis has led to a progressive broadening of the recognized spectrum of disease.

Item Type: Article
Uncontrolled Keywords: animals,autonomic nervous system diseases,brain,diarrhea,female,humans,longitudinal studies,male,mice,mice, transgenic,mutation,pedigree,phenotype,plaque, amyloid,prion diseases,prions
Faculty \ School: Faculty of Medicine and Health Sciences > Norwich Medical School
University of East Anglia > Faculty of Medicine and Health Sciences > Research Groups > Gastroenterology and Gut Biology
University of East Anglia > Faculty of Medicine and Health Sciences > Research Groups > Nutrition
Depositing User: Pure Connector
Date Deposited: 28 Nov 2014 15:48
Last Modified: 25 Jul 2018 10:17
URI: https://ueaeprints.uea.ac.uk/id/eprint/51352
DOI: 10.1056/NEJMoa1214747

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