progressive supranuclear palsy type 1


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progressive supranuclear palsy type 1

A neurodegenerative disorder (OMIM:601104) characterised by akinetic-rigid syndrome, supranuclear gaze palsy, pyramidal tract dysfunction, pseudobulbar signs and cognitive deterioration. Most cases are sporadic and associated with a common haplotype, including the MAPT gene and the flanking regions. Familial cases show an autosomal dominant pattern of transmission with incomplete penetrance.

Micro
Neurofibrillary tangles and gliosis without amyloid plaques.
 
Molecular pathology
Caused by defects of MAPT, which encodes microtubule-associated protein tau, the transcript of which undergoes complex, regulated alternative splicing, giving rise to various mRNA species.
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