The Puzzle of Hereditary Spastic Paraplegia: From Epidemiology to Treatment

Title

The Puzzle of Hereditary Spastic Paraplegia: From Epidemiology to Treatment

Creator

Meyyazhagan A.; Kuchi Bhotla H.; Pappuswamy M.; Orlacchio A.

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 15 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. 2022 by the authors.

Source

International Journal of Molecular Sciences, Vol-23, No. 14

Date

2022-01-01

Publisher

MDPI

Subject

clinical manifestations; drugs; genes; hereditary spastic paraplegia; pathways; therapies

Coverage

Meyyazhagan A., Dipartimento di Medicina e Chirurgia, Universitdi Perugia, Perugia, 06132, Italy; Kuchi Bhotla H., Department of Life Sciences, CHRIST (Deemed to be University), Bengaluru, 560029, India; Pappuswamy M., Department of Life Sciences, CHRIST (Deemed to be University), Bengaluru, 560029, India; Orlacchio A., Dipartimento di Medicina e Chirurgia, Universitdi Perugia, Perugia, 06132, Italy, Laboratorio di Neurogenetica, Centro Europeo di Ricerca sul Cervello (CERC), Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Fondazione Santa Lucia, Rome, 00179, Italy

Rights

All Open Access; Gold Open Access; Green Open Access

Relation

ISSN: 16616596; PubMed ID: 35887006

Format

Online

Language

English

Type

Review

Identifier

https://doi.org/10.3390/ijms23147665

https://www.scopus.com/inward/record.uri?eid=2-s2.0-85135132487&doi=10.3390%2fijms23147665&partnerID=40&md5=022b1783c1fd4de7ba56856185a678dc