Files and links (1)
Published (Version of Record)CC BY V4.0, Open Access
Journal article
Tandem repeat expansions and copy number variations as risk factors and diagnostic tools for amyotrophic lateral sclerosis
Frontiers in neurology, Vol.16, 1522445
2025
Abstract
Amyotrophic Lateral Sclerosis (ALS) is a neurodegenerative disorder leading to upper and lower motoneurons degeneration. Although several mechanisms potentially involved in disease development have been identified, its pathogenesis is not fully understood. From the patient side, ALS diagnosis, still based on clinical criteria, can be difficult and may take up to 1 year. More than 30 genes have been associated to genetically inherited ALS, among which four (C9ORF72, SOD1, TARDBP and FUS) would explain around 60–70% of cases. However, familial ALS represents only 5–10% of ALS cases while the remaining are sporadic, with genetics explaining 6–10% of such cases only. In this context, short tandem repeats (STRs) expansions, have recently been found in clinically diagnosed ALS patients. In this review, we discuss the recent discoveries on ALS associated STRs and their potential as biomarkers as well as prognosis and therapy targets.
Details
- Title
- Tandem repeat expansions and copy number variations as risk factors and diagnostic tools for amyotrophic lateral sclerosis
- Authors/Creators
- Eleonora Sabetta - IRCCS Ospedale San RaffaeleDavide Ferrari - University of ParmaLocatelli MassimoSulev Kõks - Murdoch University
- Publication Details
- Frontiers in neurology, Vol.16, 1522445
- Publisher
- Frontiers Media S.A.; LAUSANNE
- Number of pages
- 5
- Identifiers
- 991005742190807891
- Copyright
- © 2025 Sabetta, Ferrari, Massimo and Kõks
- Murdoch Affiliation
- Centre for Molecular Medicine and Innovative Therapeutics
- Language
- English
- Resource Type
- Journal article
UN Sustainable Development Goals (SDGs)
This output has contributed to the advancement of the following goals:
Metrics
16 File views/ downloads
17 Record Views
InCites Highlights
These are selected metrics from InCites Benchmarking & Analytics tool, related to this output
- Collaboration types
- Domestic collaboration
- International collaboration
- Citation topics
- 1 Clinical & Life Sciences
- 1.52 Neurodegenerative Diseases
- 1.52.765 ALS Mechanisms
- Web Of Science research areas
- Clinical Neurology
- Neurosciences
- ESI research areas
- Clinical Medicine