Affiliation:
1. Bashkir State Medical University
2. Institute of Biochemistry and Genetics of the Ufa Federal Scientific Сenter of Russian Academy of Sciences; Ufa University of Science and Technology; Saint-Petersburg State University
Abstract
Hereditary spastic paraplegias represent a group of hereditary neurodegenerative disorders predominantly affecting corticospinal tracts which manifest with prominent spasticity and reduced power in the muscles of the lower limbs. According to clinical signs hereditary spastic paraplegias are divided into uncomplicated (classic) and complicated forms, according to the nature of inheritance – into autosomal dominant, autosomal recessive and X-linked. Mechanisms of the development of hereditary spastic paraplegias depend on the form and could be associated with misfolding of the proteins in endoplasmatic reticulum, mitochondrial dysfunction, changes in the cholesterol metabolism etc. Diagnosis is made after exclusion of other disorders of the central nervous system and could be confirmed by molecular genetic methods. Treatment of hereditary spastic paraplegias is symptomatic.
Publisher
Publishing House ABV Press
Reference41 articles.
1. Murala S., Nagarajan E., Bollu P.C. Hereditary spastic paraplegia. Neurol Sci 2021;42(3):883–94. DOI: 10.1007/s10072-020-04981-7
2. Magzhanov R.V., Saifullina E.V., Idrisova R.F. et al. Epidemiology of hereditary spastic paraplegia in Bashkortostan Republic. Meditsinskaya genetika = Medical Genetics 2013;(7):12–6. (In Russ.)
3. Rudenskaya G.E., Kadnikova V.A., Ryzhkova O.P. Common forms of hereditary spastic paraplegs. Zhurnal nevrologii i psikhiatrii im. S.S. Korsakova = S.S. Korsakov Journal of Neurology and Psychiatry 2019;119(2):94–104. (In Russ.). DOI: 10.17116/jnevro201911902194
4. De Souza P.V.S., de Rezende Pinto W.B.V., de Rezende Batistella G.N. et al. Hereditary spastic paraplegia: Clinical and genetic hallmarks. Cerebellum 2017;16(2):525–51. DOI: 10.1007/s12311-016-0803-z
5. Lo Giudice T., Lombardi F., Santorelli F.M. et al. Hereditary spastic paraplegia: Clinical-genetic characteristics and evolving molecular mechanisms. Exp Neurol 2014;261:518–39. DOI: 10.1016/j.expneurol.2014.06.011