Atypical parkinsonism – new advances

Abstract

Purpose of review This update discusses novel aspects on genetics, pathophysiology and therapeutic approaches for atypical parkinsonism (progressive supranuclear palsy, corticobasal degeneration and multiple system atrophy) published in the last 2 years. Recent findings In terms of genetics, in progressive supranuclear palsy and corticobasal degeneration new risk loci have been identified but also their possible association to disease pathogenesis. In multiple system atrophy, there is still a debate as to whether COQ2 variants are associated with disease, at least in non-Asian population, whereas at the same time evidence of coenzyme Q10 deficiency in serum and brains of MSA patients has been reported. In terms of pathogenesis, the ‘prion’ hypothesis has prevailed in the last years in the literature, and the first clinical studies based on such disease mechanisms are already in phase I. Despite all these discoveries, clinical diagnosis still remains poor, and phenotypic variability is reported much higher than previously thought. A plethora of studies testing possible neuroprotective agents are currently ongoing. Summary The knowledge on all aspects of atypical parkinsonism has increased tremendously in the last 2 years, leading the field closer to the understanding of the pathophysiology of these diseases, and to the discovery of a neuroprotective treatment.