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Results 1 - 10 of 39 for Spastic paraplegia 1
  1. L1 syndrome 
    ... the aqueduct of Sylvius (HSAS), MASA syndrome, spastic paraplegia type 1, and X-linked complicated corpus callosum agenesis.HSAS ... may have mild enlargement of the ventricles.Spastic paraplegia type 1 is characterized by progressive muscle stiffness (spasticity) and ...
    https://medlineplus.gov/genetics/condition/l1-syndrome - Genetics
  2. Spastic paraplegia type 8 
    ... M. Brazilian family with pure autosomal dominant spastic paraplegia maps to 8q: analysis of muscle beta 1 syntrophin. Am J Med Genet. 2000 May 15; ... gene at the SPG8 locus cause hereditary spastic paraplegia. Am J Hum Genet. 2007 Jan;80(1):152-61. doi: 10.1086/510782. Epub 2006 ...
    https://medlineplus.gov/genetics/condition/spastic-paraplegia-type-8 - Genetics
  3. SPG7 gene 
    ... adhesion regulator CMAR FLJ37308 MGC126331 MGC126332 paraplegin, isoform 1 PGN spastic paraplegia 7 spastic paraplegia 7 (pure and complicated autosomal ...
    https://medlineplus.gov/genetics/gene/spg7 - Genetics
  4. Spastic paraplegia type 2 
    ... inherited dysmyelinating disorders: Pelizaeus-Merzbacher disease and spastic paraplegia type 2. Neurogenetics. 2005 Feb;6(1):1-16. doi: 10.1007/s10048-004-0207- ...
    https://medlineplus.gov/genetics/condition/spastic-paraplegia-type-2 - Genetics
  5. WASHC5 gene 
    ... M. Brazilian family with pure autosomal dominant spastic paraplegia maps to 8q: analysis of muscle beta 1 syntrophin. Am J Med Genet. 2000 May 15; ... gene at the SPG8 locus cause hereditary spastic paraplegia. Am J Hum Genet. 2007 Jan;80(1):152-61. doi: 10.1086/510782. Epub 2006 ...
    https://medlineplus.gov/genetics/gene/washc5 - Genetics
  6. Pelizaeus-Merzbacher disease 
    ... inherited dysmyelinating disorders: Pelizaeus-Merzbacher disease and spastic paraplegia type 2. Neurogenetics. 2005 Feb;6(1):1-16. doi: 10.1007/s10048-004-0207- ...
    https://medlineplus.gov/.../condition/pelizaeus-merzbacher-disease - Genetics
  7. CLN11 disease 
    ... phenotype associated with homozygous GRN mutations: complicated spastic paraplegia. Eur J Neurol. 2017 Jan;24(1):e3-e4. doi: 10.1111/ene.13194. No ...
    https://medlineplus.gov/genetics/condition/cln11-disease - Genetics
  8. ATL1 gene 
    ... childhood. Most of the mutations that cause spastic paraplegia type 3A change one protein building block (amino acid) in the atlastin-1 protein. These mutations likely lead to abnormal activity ...
    https://medlineplus.gov/genetics/gene/atl1 - Genetics
  9. Spastic paraplegia type 3A 
    ... is the most frequent cause of hereditary spastic paraplegia with onset before age 10 years. Neurology. 2006 Jan 10;66(1):112-4. doi: 10.1212/01.wnl.0000191390. ...
    https://medlineplus.gov/.../condition/spastic-paraplegia-type-3a - Genetics
  10. PLP1 gene 
    ... time. Generally, PLP1 gene mutations that cause spastic paraplegia type 2 disrupt the production of the proteolipid 1 protein but do not interfere with the production ...
    https://medlineplus.gov/genetics/gene/plp1 - Genetics
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