2024
DOI: 10.1111/neup.13009
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Pathological study of progressive supranuclear palsy the cases with mutations in Bassoon

Masahiro Wakita,
Hiroaki Yaguchi,
Mika Otuski
et al.

Abstract: Clinical diagnosis of progressive supranuclear palsy (PSP) is difficult due to various phenotypes. Neuropathologically, PSP is defined by neuronal loss in the basal ganglia and brainstem with widespread occurrence of neurofibrillary tangles (NFTs) and accumulation of phosphorylated tau protein in neurons and glial cells in the brain. We previously identified the point mutation p.Pro3866Ala in the Bassoon (BSN) gene in a Japanese family with PSP‐like syndrome. We newly detected BSN mutations in two autopsied PS… Show more

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