Role of the Tau Gene Region Chromosome Inversion in Progressive Supranuclear Palsy, Corticobasal Degeneration, and Related Disorders

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Abstract
Pick complex refers to a spectrum of diseases with a variety of overlapping clinical and pathologic features due to a related genetic etiology. A common, although not ubiquitous, overlapping feature of these diseases is the presence of tau inclusions. Thus, the genetic and brain histochemical features of the microtubule-associated protein tau gene (MAPT) (OMIM 157140) provide a compelling reason for thinking that patients with these clinically and pathologically diverse findings should be thought of as a contiguous group. These diseases are characterized clinically by cognitive, behavioral, and movement defects. This study focused on 4 diseases in the spectrum in which tau histochemical and genetic features are believed to be critical: progressive supranuclear palsy (PSP), corticobasal degeneration (CBD), and frontotemporal dementia (FTD) with or without amyotrophy.

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