PAIRED-HELICAL-FILAMENT-TAU (PHFTAU) IN NIEMANN-PICK TYPE-C DISEASE IS SIMILAR TO PHFTAU IN ALZHEIMERS-DISEASE

Niemann-Pick Type C disease (NPC) is a cholesterol storage disease wit h defects in the intracellular trafficking of exogenous cholesterol de rived from low density lipoproteins. In NPC cases with a chronic progr essive course, neurofibrillary tangles (NFTs) that consist of paired h elical filaments (PHFs) have been reported. To determine if NPC tangle s contain abnormal tau proteins (known as PHFtau) similar to those fou nd in Alzheimer's disease (AD) tangles, we examined the brains of five NPC cases by immunohistochemical and Western blot methods using a lib rary of antibodies to defined epitopes of PHFtau. We show here that PH Ftau in tangle-rich NPC brains is indistinguishable from PHFtau in AD brains. We speculate, that the generation of PHFtau in NPC may induce a cascade of pathological events that contribute to the widespread deg eneration of neurons, and that these events may be similar in NPC and AD.