Heterozygous p62/SQSTM1 mutation and right temporal variant of frontotemporal dementia: Α case report
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.
Authors
- Andreas Kyrozis (ORCID: https://orcid.org/0000-0003-2689-6426)
- Efthalia Angelopoulou (ORCID: https://orcid.org/0000-0002-1426-3384)
- Christos Κroupis (ORCID: https://orcid.org/0000-0002-5876-2599)
- Christos Koros (ORCID: https://orcid.org/0000-0001-5806-0717)
- Evangelia Stanitsa (ORCID: https://orcid.org/0000-0001-5448-3675)
- Sokratis G. Papageorgiou (ORCID: https://orcid.org/0000-0001-8863-3635)
- Vasilios C. Constantinides (ORCID: https://orcid.org/0000-0001-7432-5009)
- Georgios Velonakis (ORCID: https://orcid.org/0000-0002-0050-284X)
- Evangelos Koumasopoulos (ORCID: https://orcid.org/0009-0008-9445-7082)
- Leonidas Stefanis
- Chrysoula Michaletou
- Vasiliki Barbarousi
- Savvas Konstantinos Alevetsovitis
Institutions
- National and Kapodistrian University of Athens (GR)
- Eginition Hospital (GR)
Publication Details
- Journal
- Neurocase
- Published
- 2024-12-24
- DOI
- https://doi.org/10.1080/13554794.2024.2446315
- Primary Topic
- Amyotrophic Lateral Sclerosis Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00