Leigh Syndrome: A Comprehensive Review of the Disease and Present and Future Treatments
Leigh syndrome (LS) is a severe neurodegenerative condition with an early onset, typically during early childhood or infancy. The disorder exhibits substantial clinical and genetic diversity. From a clinical standpoint, Leigh syndrome showcases a broad range of irregularities, ranging from severe ne...
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2025-03-01
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| author | Giuseppe Magro Vincenzo Laterza Federico Tosto |
| author_facet | Giuseppe Magro Vincenzo Laterza Federico Tosto |
| author_sort | Giuseppe Magro |
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| description | Leigh syndrome (LS) is a severe neurodegenerative condition with an early onset, typically during early childhood or infancy. The disorder exhibits substantial clinical and genetic diversity. From a clinical standpoint, Leigh syndrome showcases a broad range of irregularities, ranging from severe neurological issues to minimal or no discernible abnormalities. The central nervous system is most affected, resulting in psychomotor retardation, seizures, nystagmus, ophthalmoparesis, optic atrophy, ataxia, dystonia, or respiratory failure. Some patients also experience involvement of the peripheral nervous system, such as polyneuropathy or myopathy, as well as non-neurological anomalies, such as diabetes, short stature, hypertrichosis, cardiomyopathy, anemia, renal failure, vomiting, or diarrhea (Leigh-like syndrome). Mutations associated with Leigh syndrome impact genes in both the mitochondrial and nuclear genomes. Presently, LS remains without a cure and shows limited response to various treatments, although certain case reports suggest potential improvement with supplements. Ongoing preclinical studies are actively exploring new treatment approaches. This review comprehensively outlines the genetic underpinnings of LS, its current treatment methods, and preclinical investigations, with a particular focus on treatment. |
| format | Article |
| id | doaj-art-0da2bee07e824ea69c9c991b3606dbe9 |
| institution | OA Journals |
| issn | 2227-9059 |
| language | English |
| publishDate | 2025-03-01 |
| publisher | MDPI AG |
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| series | Biomedicines |
| spelling | doaj-art-0da2bee07e824ea69c9c991b3606dbe92025-08-20T02:11:12ZengMDPI AGBiomedicines2227-90592025-03-0113373310.3390/biomedicines13030733Leigh Syndrome: A Comprehensive Review of the Disease and Present and Future TreatmentsGiuseppe Magro0Vincenzo Laterza1Federico Tosto2Department of Neuroscience, “Giovanni Paolo II” Hospital, 88100 Lamezia Terme, ItalyDepartment of Medical and Surgical Sciences, Institute of Neurology, Magna Graecia University, 88100 Catanzaro, ItalyDepartment of Neuroscience, “Giovanni Paolo II” Hospital, 88100 Lamezia Terme, ItalyLeigh syndrome (LS) is a severe neurodegenerative condition with an early onset, typically during early childhood or infancy. The disorder exhibits substantial clinical and genetic diversity. From a clinical standpoint, Leigh syndrome showcases a broad range of irregularities, ranging from severe neurological issues to minimal or no discernible abnormalities. The central nervous system is most affected, resulting in psychomotor retardation, seizures, nystagmus, ophthalmoparesis, optic atrophy, ataxia, dystonia, or respiratory failure. Some patients also experience involvement of the peripheral nervous system, such as polyneuropathy or myopathy, as well as non-neurological anomalies, such as diabetes, short stature, hypertrichosis, cardiomyopathy, anemia, renal failure, vomiting, or diarrhea (Leigh-like syndrome). Mutations associated with Leigh syndrome impact genes in both the mitochondrial and nuclear genomes. Presently, LS remains without a cure and shows limited response to various treatments, although certain case reports suggest potential improvement with supplements. Ongoing preclinical studies are actively exploring new treatment approaches. This review comprehensively outlines the genetic underpinnings of LS, its current treatment methods, and preclinical investigations, with a particular focus on treatment.https://www.mdpi.com/2227-9059/13/3/733Leigh syndromegeneticsneurologytherapypreclinical research |
| spellingShingle | Giuseppe Magro Vincenzo Laterza Federico Tosto Leigh Syndrome: A Comprehensive Review of the Disease and Present and Future Treatments Biomedicines Leigh syndrome genetics neurology therapy preclinical research |
| title | Leigh Syndrome: A Comprehensive Review of the Disease and Present and Future Treatments |
| title_full | Leigh Syndrome: A Comprehensive Review of the Disease and Present and Future Treatments |
| title_fullStr | Leigh Syndrome: A Comprehensive Review of the Disease and Present and Future Treatments |
| title_full_unstemmed | Leigh Syndrome: A Comprehensive Review of the Disease and Present and Future Treatments |
| title_short | Leigh Syndrome: A Comprehensive Review of the Disease and Present and Future Treatments |
| title_sort | leigh syndrome a comprehensive review of the disease and present and future treatments |
| topic | Leigh syndrome genetics neurology therapy preclinical research |
| url | https://www.mdpi.com/2227-9059/13/3/733 |
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