Two Forms of Presentation of Confirmed Sporadic Creutzfeldt-Jakob Disease
| Autor: | A Lopez Serrano, Castano Pérez, J.M. Seguí Ripoll, P Safont Gaso, J Peris García, P Esteve Atienzar, S Banon Esc |
|---|---|
| Rok vydání: | 2017 |
| Předmět: |
Gene isoform
education.field_of_study Pathology medicine.medical_specialty business.industry animal diseases Incidence (epidemiology) Population General Medicine Sporadic Creutzfeldt-Jakob disease Disease medicine.disease nervous system diseases medicine Dementia Gene polymorphism Presentation (obstetrics) education business |
| Zdroj: | Archives of Medicine. |
| ISSN: | 1989-5216 |
| Popis: | Prion diseases are a rare type of neurodegenerative disease, and the sporadic Creutzfeldt-Jakob subtype is the most common. The disease occurs worldwide with an incidence of 1 case per million population per year. Prion protein (PrP) gene polymorphism without genetic mutation results in an aberrant protein isoform being deposited intraneuronally, leading to spongiform neuronal degeneration. We report on two patients who were admitted to our Service with systemic and neurological disease, with fatal end after 14 and 9 months of follow-up, respectively. Diagnosis was confirmed by histologic examination of the brain. |
| Databáze: | OpenAIRE |
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