## Abstract A number of different clinical syndromes have been associated with progressive supranuclear (PSP) tau pathology. Previous reports have suggested that atypical clinical phenotypes of PSP occur in familial disease, and might be associated with mutations of __MAPT__. We examined the associ
Progress in the genetics of progressive supranuclear palsy: Tau gene and beyond
β Scribed by Vincenzo Bonifati
- Book ID
- 107543418
- Publisher
- Springer
- Year
- 2005
- Tongue
- English
- Weight
- 115 KB
- Volume
- 5
- Category
- Article
- ISSN
- 1528-4042
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Two extended haplotypes of the tau gene (H1 and H2) have been described. The frequency of H1 haplotype is increased in progressive supranuclear palsy (PSP). PSP is associated with filamentous tau lesions in neurons and glia, which are reportedly composed exclusively of tau isoforms with four repeats
## Abstract Diagnostic accuracy has been addressed previously for Parkinson's disease in a brain bank collection, but accuracy of progressive supranuclear palsy (PSP) has not been addressed in a similar setting. Clinical and genetic features of pathologically confirmed cases of PSP were compared wi