Genetic Creutzfeldt-Jakob

Image from the University of California, San Francisco Medical Center 

                                         
Genetic Creutzfeldt-Jakob disease (CJD) is a fatal degenerative brain disorder part of a group labelled prion diseases. Generally, CJD occurs as a result of the build up of "prion proteins", an abnormal form of proteins. Symptoms of CJD include depression, dementia, loss of coordination, blurred vision or blindness, difficulties speaking and swallowing. There are several mutations identified that make the presence of abnormal prion proteins which cause the degenerative disorder more likely. Each biological parent provides a copy of the prion protein gene which have 50% change of passing on the mutation to each individual offspring. In order to develop genetic CJD, only one copy of the mutation needs to be inherited. Although no present treatments are proven, blood test can detect mutations in the prion protein gene. Detection guarantees in most situations that the individual has early or late onset CJD. As genetic CJD typically manifest later on in an individual carriers life, the mutation is frequently passed on without the knowledge of the family. However, the current upside is that scientist have discovered prion disease resistance amongst the Fore people of Papua New Guinea through the presence of the amino acid, valine.