Title |
A Novel Prion Disease Associated with Diarrhea and Autonomic Neuropathy
|
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Published in |
New England Journal of Medicine, November 2013
|
DOI | 10.1056/nejmoa1214747 |
Pubmed ID | |
Authors |
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 |
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. |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
United States | 13 | 33% |
United Kingdom | 5 | 13% |
Spain | 2 | 5% |
Mexico | 1 | 3% |
Saudi Arabia | 1 | 3% |
Chile | 1 | 3% |
Japan | 1 | 3% |
Ireland | 1 | 3% |
Unknown | 15 | 38% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Members of the public | 32 | 80% |
Science communicators (journalists, bloggers, editors) | 3 | 8% |
Scientists | 3 | 8% |
Practitioners (doctors, other healthcare professionals) | 2 | 5% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Brazil | 2 | 1% |
Spain | 2 | 1% |
United States | 2 | 1% |
Finland | 1 | <1% |
Czechia | 1 | <1% |
United Kingdom | 1 | <1% |
Netherlands | 1 | <1% |
Russia | 1 | <1% |
Austria | 1 | <1% |
Other | 2 | 1% |
Unknown | 182 | 93% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Researcher | 39 | 20% |
Student > Ph. D. Student | 31 | 16% |
Professor | 20 | 10% |
Student > Master | 19 | 10% |
Other | 18 | 9% |
Other | 51 | 26% |
Unknown | 18 | 9% |
Readers by discipline | Count | As % |
---|---|---|
Medicine and Dentistry | 76 | 39% |
Neuroscience | 29 | 15% |
Agricultural and Biological Sciences | 24 | 12% |
Biochemistry, Genetics and Molecular Biology | 17 | 9% |
Psychology | 6 | 3% |
Other | 11 | 6% |
Unknown | 33 | 17% |