Hereditary Spastic Paraplegia: An Update.
Arun MeyyazhaganAntonio OrlacchioPublished in: International journal of molecular sciences (2022)
Hereditary spastic paraplegia (HSP) is a rare neurodegenerative disorder with the predominant clinical manifestation of spasticity in the lower extremities. HSP is categorised based on inheritance, the phenotypic characters, and the mode of molecular pathophysiology, with frequent degeneration in the axon of cervical and thoracic spinal cord's lateral region, comprising the corticospinal routes. The prevalence ranges from 0.1 to 9.6 subjects per 100,000 reported around the globe. Though modern medical interventions help recognize and manage the disorder, the symptomatic measures remain below satisfaction. The present review assimilates the available data on HSP and lists down the chromosomes involved in its pathophysiology and the mutations observed in the respective genes on the chromosomes. It also sheds light on the treatment available along with the oral/intrathecal medications, physical therapies, and surgical interventions. Finally, we have discussed the related diagnostic techniques as well as the linked pharmacogenomics studies under future perspectives.
Keyphrases
- heat shock protein
- spinal cord
- cerebral palsy
- botulinum toxin
- heat shock
- physical activity
- heat stress
- upper limb
- spinal cord injury
- healthcare
- neuropathic pain
- mental health
- electronic health record
- genome wide
- minimally invasive
- oxidative stress
- emergency department
- gene expression
- adverse drug
- machine learning
- transcription factor
- clinical decision support
- combination therapy
- artificial intelligence
- genome wide identification
- drug induced
- single molecule
- smoking cessation