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

Autor: Koumasopoulos E; First Department of Neurology, Eginition University Hospital, School of Medicine, National and Kapodistrian University of Athens, NKUA, Athens, Greece., Stanitsa E; First Department of Neurology, Eginition University Hospital, School of Medicine, National and Kapodistrian University of Athens, NKUA, Athens, Greece., Angelopoulou E; First Department of Neurology, Eginition University Hospital, School of Medicine, National and Kapodistrian University of Athens, NKUA, Athens, Greece., Koros C; First Department of Neurology, Eginition University Hospital, School of Medicine, National and Kapodistrian University of Athens, NKUA, Athens, Greece., Barbarousi V; Research Unit of Radiology-2nd Department of Radiology, Medical School, National and Kapodistrian University of Athens, Athens, Greece., Velonakis G; Research Unit of Radiology-2nd Department of Radiology, Medical School, National and Kapodistrian University of Athens, Athens, Greece., Michaletou C; First Department of Neurology, Eginition University Hospital, School of Medicine, National and Kapodistrian University of Athens, NKUA, Athens, Greece., Alevetsovitis SK; First Department of Neurology, Eginition University Hospital, School of Medicine, National and Kapodistrian University of Athens, NKUA, Athens, Greece., Constantinides VC; First Department of Neurology, Eginition University Hospital, School of Medicine, National and Kapodistrian University of Athens, NKUA, Athens, Greece., Kyrozis A; First Department of Neurology, Eginition University Hospital, School of Medicine, National and Kapodistrian University of Athens, NKUA, Athens, Greece., Stefanis L; First Department of Neurology, Eginition University Hospital, School of Medicine, National and Kapodistrian University of Athens, NKUA, Athens, Greece., Kroupis C; Biochemistry department, National and Kapodistrian University of Athens NKUA, Attikon, University Hospital, Athens, Greece., Papageorgiou SG; First Department of Neurology, Eginition University Hospital, School of Medicine, National and Kapodistrian University of Athens, NKUA, Athens, Greece.
Jazyk: angličtina
Zdroj: Neurocase [Neurocase] 2024 Dec 24, pp. 1-4. Date of Electronic Publication: 2024 Dec 24.
DOI: 10.1080/13554794.2024.2446315
Abstrakt: 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.
Databáze: MEDLINE