Creutzfeldt-Jakob Disease Phenotype and Course: Our Experience from a Tertiary Center.

Abstract

Introduction:Prion diseases are protein conformation disorders and neither caused by viroid or virus but is a transmissible particle labeled a prion by Pruisner. Normal prion protein becomes infectious by a different folding, but the triggers are not known. Based on the characteristic brain pathology, they are grouped under spongiform encephalopathy affecting both man and animals. Estimated prevalence is one per million. Creutzfeldt–Jakob disease (CJD) registry from National Institute and Neurosciences (NIMHANS), Bengaluru, reported 69 cases in 30 years.Patient and Methods:Patients seen by our team from December 2011 to October 2015 who satisfied criteria for probable CJD were evaluated for clinical, electrophysiological, radiological, and demographic factors. None of them underwent histopathological examination of brain tissue or tonsils. Cerebrospinal fluid protein 14-3-3 was not done. All of them were followed up by telephonic inquiry for the course of the illness. All of them received symptomatic medications with anticonvulsants, flupirtine 200 mg orally daily, and other symptomatic medications.Results:Sporadic CJD is the most common form seen in India and is probably under reported. males seem to be more affected, and the mean duration for the bed bound state is 12 months. Drugs were only effective for a very brief period in controlling myoclonus and behavior.Discussion:Sporadic CJD is one of the most common and rapidly fatal forms of dementia in India. Cortical ribboning and periodic complexes are the most common laboratory findings. Familial CJD is a very rare occurrence and variant CJD is probably not prevalent.Conclusion:All patients with rapidly progressive dementia should be handled with biohazard precautions unless proved otherwise. Role of alcohol and smoking in the transformation of PrPc to PrPsc needs to be evaluated.