hereditary spastic paraplegias การใช้

• The paraplegin gene is responsible for an autosomal recessive form of hereditary spastic paraplegia.
• This is the case in Friedreich's ataxia, hereditary spastic paraplegia, and Wilson's disease.
• Additionally the loss of its production appears to be one cause of the human neurological disease, Hereditary spastic paraplegia.
• Together with French physician Maurice Lorrain, the eponymous Str黰pell Lorrain disease is named, which is an hereditary spastic paraplegia.
• This gene is a candidate gene for other hereditary spastic paraplegias or neurodegenerative disorders as well as spastic ataxia-neuropathy syndrome.
• Hereditary spastic paraplegias ( HSPs ) are a group of inherited neurological disorders which are characterized by progressive spasticity and weakness of the lower extremities.
• Mutations in the " ATL1 " gene are also a common cause of early-onset hereditary spastic paraplegia ( HSP ) in humans.
• Hereditary spastic paraplegia was first described in 1883 by Adolph Str黰pell, a German neurologist, and was later described more extensively in 1888 by Maurice Lorrain, a French physician.
• A second homozygous enzyme-disabling mutation has been identified in CYP2U1, c . 1A > C / p . Met1 ?, that is associated with < 1 % of hereditary spastic paraplegia sufferers.
• A mutation ( c . 947A > T ) in CYP2U1 has been associated in a very small number of patients with Hereditary spastic paraplegia in that it segregates with the disease at the homozygous state in two afflicted families.
• Recessively-inherited mutations in " NTE " that substantially reduce its catalytic activity cause a rare form of hereditary spastic paraplegia ( SPG39 ), in which distal parts of long spinal axons degenerate leading to limb weakness and paralysis.
• A mutation in this gene has been reported to be associated with Hereditary spastic paraplegia, however the Pathogenicity of the mutation, which may simply represent a Polymorphism ( biology ), is unclear . [ provided by RefSeq, Mar 2010 ].
• Diseases that can cause foot drop include direct hit to posterolateral neck of fibula, stroke, amyotrophic lateral sclerosis ( ALS or Lou Gehrig's Disease ), muscular dystrophy, Charcot Marie Tooth disease, multiple sclerosis, cerebral palsy, hereditary spastic paraplegia, Guillain Barr?syndrome and Friedreich's ataxia.
• These situations include those who have suffered meningitis, a congenital ( birth-originating ) brain infection, congenital hydrocephalus unrelated to the person's premature birth, a person who has suffered head trauma, or a person with some sort of familial disease ( e . g ., those with hereditary spastic paraplegia are said to not be SDR candidates ).