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Heterozygous p62/SQSTM1 mutation and right temporal variant of frontotemporal dementia: Α case report. | LitMetric

AI Article Synopsis

Article Abstract

Mutations in sequestosome 1 (SQSTM1) gene have been associated with frontotemporal dementia (FTD), amyotrophic lateral sclerosis (ALS), frontotemporal dementia - ALS (FTD-ALS), and very recently, progressive supranuclear palsy (PSP), paget disease of bone (PDB), distal myopathy with rimmed vacuoles (DMRV), and neurodegenerative disorders in childhood. We present a case of right temporal variant of FTD (rtvFTD) with heterozygous mutation (c.823_824del(p.Ser275Phefs *17)) in SQSTM1 gene.

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Source
http://dx.doi.org/10.1080/13554794.2024.2446315DOI Listing

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