Progressive supranuclear palsy--parkinsonian disorder with tau pathology

Progressive supranuclear palsy (PSP), also known as Steele-Richardson-Olszewski syndrome, is a rare form of parkinsonism characterised by abundant tau pathology. Only a few familial cases have been reported, therefore PSP can be considered as a sporadic tauopathy. Recent case-control studies of patients with sporadic PSP suggest that PSP has a recessive pattern of inheritance. Strong genetic evidences for the involvement of the tau gene variability in the pathogenesis of PSP have been demonstrated in several Caucasian populations. We review the most important DNA polymorphisms (e.g.: A0 polymorphism and H1 haplotype) contributing to the risk of PSP. Moreover, we discuss how these DNA polymorphisms may influence the exon 10 splicing, and thus the proportion of 4R/3R tau isoforms, leading to a class II tau pathology in PSP patients.