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Spastic paraplegia 2
- ... 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 ...
- ... 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 ( ...
- ... inherited dysmyelinating disorders: Pelizaeus-Merzbacher disease and spastic paraplegia type 2. Neurogenetics. 2005 Feb;6(1):1-16. doi: ...
- ... 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 ...
- ... spastic paraplegias known as autosomal dominant hereditary spastic paraplegia, which has an estimated prevalence of 2 to 9 per 100,000 individuals. Spastic paraplegia ...
- ... 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- ...
- ... the development of paralysis of the lower limbs (paraplegia). Hereditary spastic paraplegias are divided into two types: pure and complex. The pure types involve ...
- ... the development of paralysis of the lower limbs (paraplegia). Hereditary spastic paraplegias are divided into two types: pure and complex. The pure types involve ...
- ... spasticity) and severe weakness in the lower limbs (paraplegia). Hereditary spastic paraplegias are often divided into two types: pure and complex. The pure types involve ...
- ... the development of paralysis of the lower limbs (paraplegia). Hereditary spastic paraplegias are divided into two types: pure and complex. The pure types involve ...
