Prion diseases are a very rare group of neurodegenerative diseases which are all currently untreatable and ultimately fatal. Prion diseases can exist in different forms, but the most common is sporadic Creutzfeldt-Jakob disease (sCJD) and occurs worldwide causing around 1-2 deaths per million population per annum. Both in Italy and internationally the CJD surveillance remains vital from a public health perspective in order to support essential research as well as diagnosis and management of CJD patients. CJD can pose a significant diagnostic challenge especially when accompanied by atypical features which differ from known diagnostic criteria, which have several limitations and may be enhanced in order to optimize the current diagnostic process of the disease. The primary objective of our study consists in the definition of an innovative diagnostic score capable of maximizing the diagnostic accuracy of CJD through the definition of a threshold value capable of discriminating between CJD and non-CJD subjects starting from the population of patients reported as suspected cases by local physicians in Italy to the national register of CJD and related syndromes of Istituto Superiore di Sanità (ISS).
Favorable results of this study would allow to quantify which are the most important variables in determining an effective patient classification and the system developed from the study could serve as a diagnostic support resource potentially useful to physicians in need of evaluating the diagnostic suspicion of this extremely rare disease: as only few healthcare professionals hold both the clinical and technical expertise necessary to perform an efficient diagnostic process, this study could provide the means for both an early diagnosis of the disease in our country, with respect to the current diagnostic process duration, and even diagnosis in toto for countries where conducting the necessary tests would be economically unfeasible and CJD surveillance is non-existent.
Currently in Italy CJD is a disease for which the legislator has imposed specific legislation (Ministerial Decree 21 December 2001: "Compulsory surveillance of Creutzfeldt-Jakob Disease") and whose suspicion requires the physicians to report to the national health authority. The role of diagnostic confirmation, however, is indirectly operated by the consultancy carried out by the staff of the national registry of the disease, which manages the clinical consultancy and all the tests necessary for the diagnostic assessment. The main problem is that the extreme rarity of CJD makes the disease difficult to diagnose even for experienced physicians, which is why diagnostic suspicion may be delayed or missing altogether. This is especially true in low-income countries, where health surveillance of the disease is non-existent and medical staff is not sufficiently trained to perform such diagnosis. The development of an algorithm capable of returning a score relating to the diagnostic risk of this pathology could potentially facilitate the diagnostic process for the local physician, both nationally and internationally, and reduce the time necessary to diagnose the disease: case reported to the national register would allow both an enrichment of the registry database itself, whose existence is fundamental for the research on this pathology, and potentially provision of an early diagnosis with respect to the current diagnostic process duration, which will be a directly exploitable advantage once a cure for the pathology will be hopefully available.