Apolipoprotein E in progressive supranuclear palsy in Japan

Abstract

Progressive supranuclear palsy (PSP) is a rare neurodegenerative disease which shows several psychiatric and neurologic symptoms: pseudobulbar palsy, supranuclear ocular palsy, extrapyramidal rigidity, gait ataxia, and dementia.¹ Almost all cases seem to be sporadic; therefore, the elucidation of risk factors is important to clarify the pathological mechanism. Apolipoprotein E4 (ApoE4) is now well established as a risk factor of Alzheimer's disease (AD). Here we report the ApoE allele frequency in PSP, which shares pathological findings such as neurofibrillary tangle (NFT) with AD. NFT is an important sign for the derangement of normal cytoskeletons in degenerating neurons. Although there was no significant increase in ε4 allele frequency in the present series of PSP cases compared with that in the Japanese controls, there was a significant increase in the ε2 allele frequency in PSP compared to controls.