Title |
Genetic CJD with a novel E200G mutation in the prion protein gene and comparison with E200K mutation cases
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Published in |
Acta Neuropathologica Communications, December 2013
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DOI | 10.1186/2051-5960-1-80 |
Pubmed ID | |
Authors |
Mee-Ohk Kim, Ignazio Cali, Abby Oehler, Jamie C Fong, Katherine Wong, Tricia See, Jonathan S Katz, Pierluigi Gambetti, Brianne M Bettcher, Stephen J DeArmond, Michael D Geschwind |
Abstract |
A novel point mutation resulting in a glutamate-to-glycine substitution in PRNP at codon 200, E200G with codon 129 MV polymorphism (cis valine) and type 2 PrPSc was identified in a patient with a prolonged disease course leading to pathology-proven Jakob-Creutzfeldt disease. Despite the same codon as the most common genetic form of human PRNP mutation, E200K, this novel mutation (E200G) presented with a different clinical and pathological phenotype, including prolonged duration, large vacuoles, no vacuolation in the hippocampus, severe neuronal loss in the thalamus, mild cerebellar involvement, and abundant punctate linear and curvilinear deposition of PrPSc in synaptic boutons and axonal terminals along the dendrites. |
X Demographics
Geographical breakdown
Country | Count | As % |
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United States | 1 | 50% |
Unknown | 1 | 50% |
Demographic breakdown
Type | Count | As % |
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Members of the public | 2 | 100% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
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Brazil | 1 | 4% |
Unknown | 25 | 96% |
Demographic breakdown
Readers by professional status | Count | As % |
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Student > Ph. D. Student | 6 | 23% |
Researcher | 5 | 19% |
Student > Doctoral Student | 3 | 12% |
Other | 3 | 12% |
Student > Postgraduate | 2 | 8% |
Other | 4 | 15% |
Unknown | 3 | 12% |
Readers by discipline | Count | As % |
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Agricultural and Biological Sciences | 6 | 23% |
Biochemistry, Genetics and Molecular Biology | 5 | 19% |
Neuroscience | 5 | 19% |
Medicine and Dentistry | 2 | 8% |
Immunology and Microbiology | 1 | 4% |
Other | 3 | 12% |
Unknown | 4 | 15% |