Abstract
Very often the clinical features of rare neurodegenerative disorders overlap with those of other, more common clinical disturbances. As a consequence, not only the true incidence of these disorders is underestimated, but many patients also experience a significant delay before a definitive diagnosis. Under this scenario, it appears clear that any accurate tool producing information about the pathological mechanisms of these disorders would offer a novel context for their precise identification by strongly enhancing the interpretation of symptoms. With the advent of proteomics, detection and identification of proteins in different organs/tissues, aimed at understanding whether they represent an attractive tool for monitoring alterations in these districts, has become an area of increasing interest. The aim of this report is to provide an overview of the most recent applications of proteomics as a new strategy for identifying biomarkers with a clinical utility for the investigation of rare neurodegenerative disorders.