Journal article
Hereditary spastic paraplegia: Novel insights into the pathogenesis and management
SAGE open medicine, v 12
01 Jan 2024
PMID: 38162912
Featured in Collection : UN Sustainable Development Goals @ Drexel
Abstract
Hereditary spastic paraplegia is a genetically heterogeneous neurodegenerative disorder characterised primarily by muscle stiffness in the lower limbs. Neurodegenerative disorders are conditions that result from cellular and metabolic abnormalities, many of which have strong genetic ties. While ageing is a known contributor to these changes, certain neurodegenerative disorders can manifest early in life, progressively affecting a person’s quality of life. Hereditary spastic paraplegia is one such condition that can appear in individuals of any age. In hereditary spastic paraplegia, a distinctive feature is the degeneration of long nerve fibres in the corticospinal tract of the lower limbs. This degeneration is linked to various cellular and metabolic processes, including mitochondrial dysfunction, remodelling of the endoplasmic reticulum membrane, autophagy, abnormal myelination processes and alterations in lipid metabolism. Additionally, hereditary spastic paraplegia affects processes like endosome membrane trafficking, oxidative stress and mitochondrial DNA polymorphisms. Disease-causing genetic loci and associated genes influence the progression and severity of hereditary spastic paraplegia, potentially affecting various cellular and metabolic functions. Although hereditary spastic paraplegia does not reduce a person’s lifespan, it significantly impairs their quality of life as they age, particularly with more severe symptoms. Regrettably, there are currently no treatments available to halt or reverse the pathological progression of hereditary spastic paraplegia. This review aims to explore the metabolic mechanisms underlying the pathophysiology of hereditary spastic paraplegia, emphasising the interactions of various genes identified in recent network studies. By comprehending these associations, targeted molecular therapies that address these biochemical processes can be developed to enhance treatment strategies for hereditary spastic paraplegia and guide clinical practice effectively.
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Details
- Title
- Hereditary spastic paraplegia: Novel insights into the pathogenesis and management
- Creators
- Wireko Andrew Awuah - Sumy State UniversityJoecelyn Kirani Tan - University of St AndrewsAnastasiia D Shkodina - Poltava V.G. Korolenko National Pedagogical UniversityTomas Ferreira - University of CambridgeFavour Tope Adebusoye - Sumy State UniversityAdele Mazzoleni - Queen Mary University of LondonJack Wellington - Cardiff UniversityLian David - University of East AngliaEllie Chilcott - Cardiff UniversityHelen Huang - Royal College of Surgeons in IrelandToufik Abdul-RahmanVallabh Shet - Bangalore Medical College and Research InstituteOday Atallah - Medizinische Hochschule HannoverJacob Kalmanovich - Drexel UniversityRiaz Jiffry - Royal College of Surgeons in IrelandDivine Elizabeth MadhuKateryna Sikora - Sumy State UniversityOleksii Kmyta - Sumy State UniversityMykhailo Yu Delva - Poltava V.G. Korolenko National Pedagogical University
- Publication Details
- SAGE open medicine, v 12
- Publisher
- SAGE Publications
- Resource Type
- Journal article
- Language
- English
- Academic Unit
- College of Medicine
- Web of Science ID
- WOS:001133709600001
- Scopus ID
- 2-s2.0-85181197907
- Other Identifier
- 991021901513704721
UN Sustainable Development Goals (SDGs)
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Source: SDGs in the Output
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- Collaboration types
- Domestic collaboration
- International collaboration
- Web of Science research areas
- Clinical Neurology