RESEARCH - Creutzfeldt-Jakob Disease and Other Prion Diseases

Characteristics of Creutzfeldt-Jakob Disease Phenotypes

Principal Investigator: Brian S. Appleby, M.D.

Creutzfeldt-Jakob disease (CJD) presents with a variety of symptoms. Some individuals with CJD share similar symptoms in the initial stages of the illness, allowing them to be classified into groups called phenotypes. CJD phenotypes will be investigated to assess for possible associations between clinical symptoms, diagnostic test results, and pathological and biochemical characteristics in the hopes of improving detection rates in clinics, shortening the time from onset to diagnosis, identifying appropriate diagnostic studies, and selecting treatments.

The Clinical Course of Genetic Prion Diseases

Principal Investigator: Brian S. Appleby, M.D.

We are interested in following families with prion diseases to describe the course of illness and identify early symptoms or signs that may indicate an early stage of illness when emerging treatments can be most effectively utilized. Individual genetic factors that influence the clinical expression of prion diseases will also be described. All individuals who have familial CJD, fatal familial insomnia, Gerstmann-Straüsler-Scheinker disease, or other genetic forms of prion diseases are eligible for the study.

Risk Factors for Creutzfeldt-Jakob Disease

Principal Investigator: Brian S. Appleby, M.D.

We are investigating potential risk factors for the development of CJD and other prion diseases. Information is collected, analyzed, and compared to individuals with other types of dementia to assess risks that are specific to the development of CJD. All individuals who have CJD and other prion diseases and receive their care from the clinic are eligible for the study.