Purpose of the review: This review focuses on the recent additions to the literature in the clinical and genetic aspects of progressive supranuclear palsy.
Recent findings: Clinical features of progressive supranuclear palsy are reasonably well established and known to be quite characteristic. Recent epidemiological studies suggest that the disorder is more common than previously considered and that it is frequently misdiagnosed. New laboratory and novel imaging techniques are being tested and cerebrospinal fluid levels of tau protein have been found helpful in diagnosis. Pathological and biochemical studies in progressive supranuclear palsy brains have shown the predominance of hyperphosphorylated tau isoforms which contain the sequence encoded by exon 10 (4R) aggregated into filaments. Familial tauopathies linked to tau gene mutations showing clinical and neuropathological overlap with sporadic progressive supranuclear palsy have been described. Despite recent discoveries of the strong genetic association of sporadic progressive supranuclear palsy with tau gene polymorphisms, a specific risk allele for developing the palsy has not yet been identified yet.
Summary: Recent clinical studies and clinicopathological correlations are contributing significantly to the delineation of the clinical features of progressive supranuclear palsy. These features and the appropriate use of laboratory tests allow for an earlier identification of the disease and a more accurate premortem diagnosis. However, no specific biological markers for the disorder are available yet, and consequently diagnosis in the early stages or when some of the characteristic signs and symptoms are missing, remains a major challenge. Despite the recent advances in the understanding of genetic factors involved in progressive supranuclear palsy, the cause of the disease still remains unknown. Biochemical studies in brains from progressive supranuclear palsy patients provide a potential helpful instrument to improve the characterization of this disorder.