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Results 1 - 10 of 54 for Spastic paraplegia 2
  1. ... cases. Mutations in the PLP1 gene cause spastic paraplegia 2. The PLP1 gene provides instructions for producing proteolipid ... life. Hereditary X-linked recessive spastic paraplegia Spastic paraplegia 2 X linked recessive hereditary spastic paraplegia Genetic Testing ...
  2. ... mutations in the PLP1 gene that cause spastic paraplegia type 2 have been identified. Spastic paraplegia type 2 is characterized by movement problems, particularly muscle stiffness ( ...
  3. Neuromuscular Disorders (National Library of Medicine)  
    Neuromuscular disorders affect your neuromuscular system. They can cause problems with: The nerves that control your muscles Your muscles Communication between your ...
  4. Paralysis (National Library of Medicine)  
    Paralysis is the loss of muscle function in part of your body. It happens when something goes wrong with the way messages pass between your brain and muscles. ...
  5. ... inherited dysmyelinating disorders: Pelizaeus-Merzbacher disease and spastic paraplegia type 2. Neurogenetics. 2005 Feb;6(1):1-16. doi: ...
  6. Leukodystrophy From the National Institutes of Health (National Institute of Neurological Disorders and Stroke)  
    Leukodystrophies/Start Here ... Leukodystrophies ... Leukodystrophy refers to genetic diseases that predominantly affect the white matter of the central nervous ...
  7. Traumatic Spinal Cord Injury Facts and Figures at a Glance (University of Alabama at Birmingham) - PDF  
    Spinal Cord Injuries/Statistics and Research ... Spinal Cord Injuries ... University of Alabama at Birmingham ... PDF
  8. ... expand the phenotype of REEP1-associated hereditary spastic paraplegia (HSP). Neurogenetics. 2009 Apr;10(2):105-10. doi: 10.1007/s10048-008-0163- ... the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia type 31. Am J Hum Genet. 2006 Aug;79(2):365-9. doi: 10.1086/505361. Epub 2006 ...
  9. ... spastic paraplegias known as autosomal dominant hereditary spastic paraplegia, which has an estimated prevalence of 2 to 9 per 100,000 individuals. Spastic paraplegia ...
  10. ... of the body only. The prevalence of spastic paraplegia type 4 is estimated to be 2 to 6 in 100,000 people worldwide. Mutations ... are relevant and possibly treatable in hereditary spastic paraplegia type 4 (SPG4). J Neurol. 2020 Feb;267(2):369-379. doi: 10.1007/s00415-019-09573- ...
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