Progressive Supranuclear Palsy expanding the clinical and genetic spectrum Donker Kaat, L. 2011-12-02 Doctoral Thesis

 Progressive Supranuclear Palsy (PSP) has been used to denote a unifying disorder with progressive parkinsonism with early falls, vertical supranuclear gaze palsy, pseudobulbar dysfunction and cognitive decline. Over the last decade, heterogeneity of the disease into different clinical subtypes has been recognized in clinicopathological studies. Although neuroimaging features and laboratory findings may support the diagnosis, true biomarkers are still lacking in the clinical setting. Neuronal and glial tau positive aggregates are predominantly found in basal ganglia and brainstem, and the significant association of PSP with the common H1 tau haplotype likely points to a pathophysiological role of the tau protein in the disease process. Future genetic studies of familial cases and an ongoing genomewide association study of large series of pathological-proven cases may reveal additional genetic factors in the near future.
http://repub.eur.nl/res/pub/30603/111202_Donker%20Kaat%2C%20Laura_bewerkt.pdf