Tandem repeat expansions and copy number variations as risk factors and diagnostic tools for amyotrophic lateral sclerosis
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...
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Frontiers Media S.A.
2025-02-01
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| Series: | Frontiers in Neurology |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fneur.2025.1522445/full |
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| author | Eleonora Sabetta Davide Ferrari Locatelli Massimo Sulev Kõks Sulev Kõks |
| author_facet | Eleonora Sabetta Davide Ferrari Locatelli Massimo Sulev Kõks Sulev Kõks |
| author_sort | Eleonora Sabetta |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-a00bf2f14b8048ba967bcf05747b06b8 |
| institution | Kabale University |
| issn | 1664-2295 |
| language | English |
| publishDate | 2025-02-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Neurology |
| spelling | doaj-art-a00bf2f14b8048ba967bcf05747b06b82025-02-12T05:15:05ZengFrontiers Media S.A.Frontiers in Neurology1664-22952025-02-011610.3389/fneur.2025.15224451522445Tandem repeat expansions and copy number variations as risk factors and diagnostic tools for amyotrophic lateral sclerosisEleonora Sabetta0Davide Ferrari1Locatelli Massimo2Sulev Kõks3Sulev Kõks4IRCCS Ospedale San Raffaele, Milan, ItalySCVSA Department, University of Parma, Parma, ItalyIRCCS Ospedale San Raffaele, Milan, ItalyPerron Institute for Neurological and Translational Science, Perth, WA, AustraliaCentre for Molecular Medicine and Innovative Therapeutics, Murdoch University, Perth, WA, AustraliaAmyotrophic 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.https://www.frontiersin.org/articles/10.3389/fneur.2025.1522445/fullALSSTRC9ORF72ataxinHuntington’s disease |
| spellingShingle | Eleonora Sabetta Davide Ferrari Locatelli Massimo Sulev Kõks Sulev Kõks Tandem repeat expansions and copy number variations as risk factors and diagnostic tools for amyotrophic lateral sclerosis Frontiers in Neurology ALS STR C9ORF72 ataxin Huntington’s disease |
| title | Tandem repeat expansions and copy number variations as risk factors and diagnostic tools for amyotrophic lateral sclerosis |
| title_full | Tandem repeat expansions and copy number variations as risk factors and diagnostic tools for amyotrophic lateral sclerosis |
| title_fullStr | Tandem repeat expansions and copy number variations as risk factors and diagnostic tools for amyotrophic lateral sclerosis |
| title_full_unstemmed | Tandem repeat expansions and copy number variations as risk factors and diagnostic tools for amyotrophic lateral sclerosis |
| title_short | Tandem repeat expansions and copy number variations as risk factors and diagnostic tools for amyotrophic lateral sclerosis |
| title_sort | tandem repeat expansions and copy number variations as risk factors and diagnostic tools for amyotrophic lateral sclerosis |
| topic | ALS STR C9ORF72 ataxin Huntington’s disease |
| url | https://www.frontiersin.org/articles/10.3389/fneur.2025.1522445/full |
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