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Results 1 - 10 of 23 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. 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
  4. 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
  5. 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
  6. 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
  7. Spastic paraplegia type 5A 
    ... genetic analysis of Taiwanese patients with hereditary spastic paraplegia type 5. Eur J Neurol. 2015 Jan;22(1):211-4. doi: 10.1111/ene.12407. Epub ...
    https://medlineplus.gov/.../condition/spastic-paraplegia-type-5a - Genetics
  8. Spastic paraplegia type 4 
    ... Irish HSP Consortium. Clinical features of hereditary spastic paraplegia due to spastin mutation. Neurology. 2006 Jul 11;67(1):45-51. doi: 10.1212/01.wnl.0000223315. ...
    https://medlineplus.gov/genetics/condition/spastic-paraplegia-type-4 - Genetics
  9. Infantile-onset ascending hereditary spastic paralysis 
    ... J, Bohlega S. Infantile-onset ascending hereditary spastic paraplegia with bulbar involvement due to the novel ALS2 mutation c.2761C>T. Gene. 2014 Feb 15;536(1):217-20. doi: 10.1016/j.gene.2013. ...
    https://medlineplus.gov/...et-ascending-hereditary-spastic-paralysis - Genetics
  10. Spastic paraplegia type 49 
    ... ER Export. Mol Cell. 2015 Oct 1;60(1):89-104. doi: 10.1016/j.molcel.2015.09.010. Citation on PubMed
    https://medlineplus.gov/.../condition/spastic-paraplegia-type-49 - Genetics
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