Question

If a patient was diagnosed with Creutzfeldt-Jakob disease before death and the autopsy reveals that the deceased patient had Gerstmann-Straussler-Scheinker disease, then what does this mean about the patient? Were they misdiagnosed or is it possible to have both? Could these diseases be present in the children and family members of the deceased patient?

Answer 1

Creutzfeldt-Jakob disease (CJD) is rare degenerative fatal brain disorder charecterized by failing memory,behavorial changes, lack of cordination and visual disturbances. Gerstmann-Straussler-Scheinker disease is also rare genetic degenerative brain disorder charecterized with progressive loss of cordination, difficulty in walking, clumsiness in walking, and dementia.

GSS and CJD are classified as Transmissible spongiform encephalopathy or prion disease which are caused by accumulation of misfolded prion protien in the brain (prion is an abnormal protien) because of this they have clinical simlarities.These diseases cause unique changes in brain tissues which can be seen at autopsy, the damage to brain tissues may appear as sponge like cavity or spaces when examined under a microscope which is why they are called as Prion diseases, this is the reason why diagnosis and autopsy result was diffrent.

Prion diseases cannot be transmitted through air or by touching or any form of casual contact, family members have no higher risk of contracting the disease than the general population, they rarely affect the children, CJD usually appears in later life (at the age of about 60 or 70), GSS generally affects patients from 20 to 60 years in age.