Familial Creutzfeldt-Jakob Disease Cluster Among an African American Family
| Autor: | Matthew G. Johnson, Kristy K. Bradley, Ermias D. Belay, Rebecca L. Coffman |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2017 |
| Předmět: |
0301 basic medicine
medicine.medical_specialty Coping (psychology) Prions Genetic counseling Disease 030105 genetics & heredity Disease cluster Article Creutzfeldt-Jakob Syndrome 03 medical and health sciences 0302 clinical medicine medicine Cluster Analysis Humans Genetic Testing Genetic testing Genetics medicine.diagnostic_test business.industry Health Policy Public health Public Health Environmental and Occupational Health United States nervous system diseases Black or African American Family planning Familial Creutzfeldt-Jakob Public Health business 030217 neurology & neurosurgery |
| Popis: | Familial Creutzfeldt-Jakob disease (fCJD) results from inheritance of mutations in the prion protein gene. Confirming fCJD diagnosis is essential for informing persons of their potential hereditary risk and for genetic counseling to support personal decisions for genetic testing and family planning. We describe a case of fCJD that was linked to a large cluster of African Americans with fCJD identified through a public health investigation, including 8 confirmed cases and 13 suspected cases involving 7 generations in 1 family. Genetic counseling is an important component of fCJD management for families coping with genetic prion diseases. |
| Databáze: | OpenAIRE |
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