A novel prion disease associated with diarrhea and autonomic neuropathy

Simon Mead; Sonia Gandhi; Jon Beck; Diana Caine; Dilip Gajulapalli; 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

doi:10.1056/NEJMoa1214747

A novel prion disease associated with diarrhea and autonomic neuropathy

Simon Mead, Sonia Gandhi, Jon Beck, Diana Caine, Dilip Gajulapalli, 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 RudgeSebastian Brandner, Jason D Warren, Jonathan D F Wadsworth, Nicholas W Wood, Janice L Holton, John Collinge

Research output: Contribution to journal › Article › peer-review

109 Citations (Scopus)

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.

Original language	English
Pages (from-to)	1904-1914
Number of pages	11
Journal	New England Journal of Medicine
Volume	369
Issue number	20
DOIs	https://doi.org/10.1056/NEJMoa1214747
Publication status	Published - 14 Nov 2013

Keywords

Animals
Autonomic Nervous System Diseases
Brain
Diarrhea
Female
Humans
Longitudinal Studies
Male
Mice
Mice, Transgenic
Mutation
Pedigree
Phenotype
Plaque, Amyloid
Prion Diseases
Prions

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

Access to Document

10.1056/NEJMoa1214747

Cite this

Mead, S., Gandhi, S., Beck, J., Caine, D., Gajulapalli, D., Gallujipali, D., Carswell, C., Hyare, H., Joiner, S., Ayling, H., Lashley, T., Linehan, J. M., Al-Doujaily, H., Sharps, B., Revesz, T., Sandberg, M. K., Reilly, M. M., Koltzenburg, M., Forbes, A., ... Collinge, J. (2013). A novel prion disease associated with diarrhea and autonomic neuropathy. New England Journal of Medicine, 369(20), 1904-1914. https://doi.org/10.1056/NEJMoa1214747

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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.",

keywords = "Animals, Autonomic Nervous System Diseases, Brain, Diarrhea, Female, Humans, Longitudinal Studies, Male, Mice, Mice, Transgenic, Mutation, Pedigree, Phenotype, Plaque, Amyloid, Prion Diseases, Prions",

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Mead, S, Gandhi, S, Beck, J, Caine, D, Gajulapalli, D, Gallujipali, D, Carswell, C, Hyare, H, Joiner, S, Ayling, H, Lashley, T, Linehan, JM, Al-Doujaily, H, Sharps, B, Revesz, T, Sandberg, MK, Reilly, MM, Koltzenburg, M, Forbes, A, Rudge, P, Brandner, S, Warren, JD, Wadsworth, JDF, Wood, NW, Holton, JL & Collinge, J 2013, 'A novel prion disease associated with diarrhea and autonomic neuropathy', New England Journal of Medicine, vol. 369, no. 20, pp. 1904-1914. https://doi.org/10.1056/NEJMoa1214747

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AU - Mead, Simon

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AU - Caine, Diana

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AU - Carswell, Christopher

AU - Hyare, Harpreet

AU - Joiner, Susan

AU - Ayling, Hilary

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AU - Linehan, Jacqueline M

AU - Al-Doujaily, Huda

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AU - Forbes, Alastair

AU - Rudge, Peter

AU - Brandner, Sebastian

AU - Warren, Jason D

AU - Wadsworth, Jonathan D F

AU - Wood, Nicholas W

AU - Holton, Janice L

AU - Collinge, John

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KW - Animals

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KW - Brain

KW - Diarrhea

KW - Female

KW - Humans

KW - Longitudinal Studies

KW - Male

KW - Mice

KW - Mice, Transgenic

KW - Mutation

KW - Pedigree

KW - Phenotype

KW - Plaque, Amyloid

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