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The Puzzle of Hereditary Spastic Paraplegia: From Epidemiology to Treatment

Inherited neurodegenerative pathology characterized by lower muscle tone and increasing spasticity in the lower limbs is termed hereditary spastic paraplegia (HSP). HSP is associated with changes in about 80 genes and their products involved in various biochemical pathways, such as lipid droplet for...

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Autores principales: Meyyazhagan, Arun, Kuchi Bhotla, Haripriya, Pappuswamy, Manikantan, Orlacchio, Antonio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9321931/
https://www.ncbi.nlm.nih.gov/pubmed/35887006
http://dx.doi.org/10.3390/ijms23147665
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author Meyyazhagan, Arun
Kuchi Bhotla, Haripriya
Pappuswamy, Manikantan
Orlacchio, Antonio
author_facet Meyyazhagan, Arun
Kuchi Bhotla, Haripriya
Pappuswamy, Manikantan
Orlacchio, Antonio
author_sort Meyyazhagan, Arun
collection PubMed
description Inherited neurodegenerative pathology characterized by lower muscle tone and increasing spasticity in the lower limbs is termed hereditary spastic paraplegia (HSP). HSP is associated with changes in about 80 genes and their products involved in various biochemical pathways, such as lipid droplet formation, endoplasmic reticulum shaping, axon transport, endosome trafficking, and mitochondrial function. With the inheritance patterns of autosomal dominant, autosomal recessive, X-linked recessive, and mitochondrial inheritance, HSP is prevalent around the globe at a rate of 1–5 cases in every 100,000 individuals. Recent technology and medical interventions somewhat aid in recognizing and managing the malaise. However, HSP still lacks an appropriate and adequate therapeutic approach. Current therapies are based on the clinical manifestations observed in the patients, for example, smoothing the relaxant spastic muscle and physiotherapies. The limited clinical trial studies contribute to the absence of specific pharmaceuticals for HSPs. Our current work briefly explains the causative genes, epidemiology, underlying mechanism, and the management approach undertaken to date. We have also mentioned the latest approved drugs to summarise the available knowledge on therapeutic strategies for HSP.
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spelling pubmed-93219312022-07-27 The Puzzle of Hereditary Spastic Paraplegia: From Epidemiology to Treatment Meyyazhagan, Arun Kuchi Bhotla, Haripriya Pappuswamy, Manikantan Orlacchio, Antonio Int J Mol Sci Review Inherited neurodegenerative pathology characterized by lower muscle tone and increasing spasticity in the lower limbs is termed hereditary spastic paraplegia (HSP). HSP is associated with changes in about 80 genes and their products involved in various biochemical pathways, such as lipid droplet formation, endoplasmic reticulum shaping, axon transport, endosome trafficking, and mitochondrial function. With the inheritance patterns of autosomal dominant, autosomal recessive, X-linked recessive, and mitochondrial inheritance, HSP is prevalent around the globe at a rate of 1–5 cases in every 100,000 individuals. Recent technology and medical interventions somewhat aid in recognizing and managing the malaise. However, HSP still lacks an appropriate and adequate therapeutic approach. Current therapies are based on the clinical manifestations observed in the patients, for example, smoothing the relaxant spastic muscle and physiotherapies. The limited clinical trial studies contribute to the absence of specific pharmaceuticals for HSPs. Our current work briefly explains the causative genes, epidemiology, underlying mechanism, and the management approach undertaken to date. We have also mentioned the latest approved drugs to summarise the available knowledge on therapeutic strategies for HSP. MDPI 2022-07-11 /pmc/articles/PMC9321931/ /pubmed/35887006 http://dx.doi.org/10.3390/ijms23147665 Text en © 2022 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Review
Meyyazhagan, Arun
Kuchi Bhotla, Haripriya
Pappuswamy, Manikantan
Orlacchio, Antonio
The Puzzle of Hereditary Spastic Paraplegia: From Epidemiology to Treatment
title The Puzzle of Hereditary Spastic Paraplegia: From Epidemiology to Treatment
title_full The Puzzle of Hereditary Spastic Paraplegia: From Epidemiology to Treatment
title_fullStr The Puzzle of Hereditary Spastic Paraplegia: From Epidemiology to Treatment
title_full_unstemmed The Puzzle of Hereditary Spastic Paraplegia: From Epidemiology to Treatment
title_short The Puzzle of Hereditary Spastic Paraplegia: From Epidemiology to Treatment
title_sort puzzle of hereditary spastic paraplegia: from epidemiology to treatment
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9321931/
https://www.ncbi.nlm.nih.gov/pubmed/35887006
http://dx.doi.org/10.3390/ijms23147665
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