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

Evangelos Koumasopoulos; Evangelia Stanitsa; Efthalia Angelopoulou; Christos Koros; Vasiliki Barbarousi; Georgios Velonakis; Chrysoula Michaletou; Savvas Konstantinos Alevetsovitis; Vasilios C Constantinides; Andreas Kyrozis; Leonidas Stefanis; Christos Kroupis; Sokratis G Papageorgiou

doi:10.1080/13554794.2024.2446315

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

Neurocase. 2024 Dec 24:1-4. doi: 10.1080/13554794.2024.2446315. Online ahead of print.

Affiliations

¹ First Department of Neurology, Eginition University Hospital, School of Medicine, National and Kapodistrian University of Athens, NKUA, Athens, Greece.
² Research Unit of Radiology-2nd Department of Radiology, Medical School, National and Kapodistrian University of Athens, Athens, Greece.
³ Biochemistry department, National and Kapodistrian University of Athens NKUA, Attikon, University Hospital, Athens, Greece.

PMID: 39719859
DOI: 10.1080/13554794.2024.2446315

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.

Keywords: Frontotemporal dementia; SQSTM1; genetic; prosopagnosia; right temporal variant FTD.