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- W4226268558 abstract "Early-onset forms of Alzheimer disease (AD) have been associated with pathogenic variants in the APP , PSEN1 , and PSEN2 genes. Mutations in presenilin-1 ( PSEN1 ) account for the majority of cases of autosomal dominant AD. Numerous phenotypes have been associated with PSEN1 -pathogenic variants, including cerebellar ataxia and spastic paraplegia. Here, we describe a patient with early-onset AD presenting with extrapyramidal symptoms and supranuclear gaze palsy, mimicking progressive supranuclear palsy." @default.
- W4226268558 created "2022-05-05" @default.
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- W4226268558 date "2023-01-01" @default.
- W4226268558 modified "2023-09-29" @default.
- W4226268558 title "A New Presenilin-1 Missense Variant Associated With a Progressive Supranuclear Palsy-like Phenotype" @default.
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- W4226268558 doi "https://doi.org/10.1097/wad.0000000000000503" @default.
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