The Puzzle of Hereditary Spastic Paraplegia: From Epidemiology to Treatment.
Arun MeyyazhaganHaripriya Kuchi BhotlaManikantan PappusamyAntonio OrlacchioPublished in: International journal of molecular sciences (2022)
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.
Keyphrases
- heat shock
- heat shock protein
- heat stress
- cerebral palsy
- botulinum toxin
- clinical trial
- endoplasmic reticulum
- upper limb
- end stage renal disease
- healthcare
- skeletal muscle
- chronic kidney disease
- mitochondrial dna
- ejection fraction
- newly diagnosed
- intellectual disability
- spinal cord injury
- genome wide
- gene expression
- prognostic factors
- randomized controlled trial
- physical activity
- fatty acid
- single cell
- study protocol
- genome wide identification
- copy number
- phase ii
- bioinformatics analysis
- children with cerebral palsy