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JOURNAL ARTICLE
Simon Mead, Sonia Gandhi, Jon Beck, Diana Caine, Dillip Gallujipali, Christopher Carswell, Harpreet Hyare, Susan Joiner, Hilary Ayling, Tammaryn Lashley, Jacqueline M Linehan, Huda Al-Doujaily, Bernadette Sharps, Tamas Revesz, Malin K Sandberg, Mary M Reilly, Martin Koltzenburg, Alastair Forbes, Peter Rudge, Sebastian Brandner, Jason D Warren, Jonathan D F Wadsworth, Nicholas W Wood, Janice L Holton, John Collinge
BACKGROUND: 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...
November 14, 2013: New England Journal of Medicine
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