Group of genetic disorders affecting motor neurons controlling the lower limbs
Medical condition
Hereditary spastic paraplegia
Specialty
Neurology
Hereditary spastic paraplegia (HSP) is a group of inherited diseases whose main feature is a progressive gait disorder. The disease presents with progressive stiffness (spasticity) and contraction in the lower limbs.[1] HSP is also known as hereditary spastic paraparesis, familial spastic paraplegia, French settlement disease, Strumpell disease, or Strumpell-Lorrain disease. The symptoms are a result of dysfunction of long axons in the spinal cord. The affected cells are the primary motor neurons; therefore, the disease is an upper motor neuron disease.[2] HSP is not a form of cerebral palsy even though it physically may appear and behave much the same as spastic diplegia. The origin of HSP is different from cerebral palsy. Despite this, some of the same anti-spasticity medications used in spastic cerebral palsy are sometimes used to treat HSP symptoms.
HSP is caused by defects in transport of proteins, structural proteins, cell-maintaining proteins, lipids, and other substances through the cell. Long nerve fibers (axons) are affected because long distances make nerve cells particularly sensitive to defects in these mentioned mechanisms.[3][4]
The disease was first described in 1880 by the German neurologist Adolph Strümpell.[5] It was described more extensively in 1888 by Maurice Lorrain, a French physician.[6] Due to their contribution in describing the disease, it is still called Strümpell-Lorrain disease in French-speaking countries. The term hereditary spastic paraplegia was coined by Anita Harding in 1983.[7]
^Fink, John K. (2003-08-01). "The hereditary spastic paraplegias: nine genes and counting". Archives of Neurology. 60 (8): 1045–1049. doi:10.1001/archneur.60.8.1045. ISSN 0003-9942. PMID 12925358.
^Depienne, Christel; Stevanin, Giovanni; Brice, Alexis; Durr, Alexandra (2007-12-01). "Hereditary spastic paraplegias: an update". Current Opinion in Neurology. 20 (6): 674–680. doi:10.1097/WCO.0b013e3282f190ba. ISSN 1350-7540. PMID 17992088. S2CID 35343501.
^Blackstone, Craig (21 July 2012). "Cellular Pathways of Hereditary Spastic Paraplegia". Annual Review of Neuroscience. 35 (1): 25–47. doi:10.1146/annurev-neuro-062111-150400. PMC 5584684. PMID 22540978.
^De Matteis, Maria Antonietta; Luini, Alberto (2011-09-08). "Mendelian disorders of membrane trafficking". The New England Journal of Medicine. 365 (10): 927–938. doi:10.1056/NEJMra0910494. ISSN 1533-4406. PMID 21899453. S2CID 14772080.
^Faber I, Pereira ER, Martinez AR, França M Jr, Teive HA (November 2013). "Hereditary spastic paraplegia from 1880 to 2017: an historical review". Arquivos de Neuro-Psiquiatria. 75 (11). Brazilian Academy of Neurology: 813–818. doi:10.1590/0004-282X20170160. PMID 29236826.
^Lorrain, Maurice. Contribution à l'étude de la paraplégie spasmodique familiale: travail de la clinique des maladies du système nerveux à la Salpêtrière. G. Steinheil, 1898.
^Harding, AE (1983). "Classification of the hereditary ataxias and paraplegias". Lancet. 1 (8334). New York: 1151–5. doi:10.1016/s0140-6736(83)92879-9. PMID 6133167. S2CID 6780732.
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