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Results 1 - 10 of 11 for Hereditary spastic paraplegia 30
  1. TUBB4A-related leukodystrophy 
    ... TUBB4A mutation in an inbred family with complicated hereditary spastic paraplegia. Mov Disord. 2015 May;30(6):854-8. doi: 10.1002/mds.26196. ...
    https://medlineplus.gov/.../condition/tubb4a-related-leukodystrophy - Genetics
  2. TUBB4A gene 
    ... TUBB4A mutation in an inbred family with complicated hereditary spastic paraplegia. Mov Disord. 2015 May;30(6):854-8. doi: 10.1002/mds.26196. ...
    https://medlineplus.gov/genetics/gene/tubb4a - Genetics
  3. ATL1 gene 
    ... Mutation screening of spastin, atlastin, and REEP1 in hereditary spastic paraplegia. Clin Genet. 2011 Jun;79(6):523-30. doi: 10.1111/j.1399-0004.2010.01501. ...
    https://medlineplus.gov/genetics/gene/atl1 - Genetics
  4. Spastic paraplegia type 31 
    ... Spastic paraplegia type 31 is usually a pure hereditary spastic paraplegia, although a few complicated cases have been reported.The first signs and symptoms of spastic paraplegia type 31 usually appear before age 20 or after age 30. An early feature is difficulty walking due to ...
    https://medlineplus.gov/.../condition/spastic-paraplegia-type-31 - Genetics
  5. REEP1 gene 
    ... neuronal-like exocytotic tissues. Brain Res. 2014 Jan 30;1545:12-22. doi: ... hereditary spastic paraplegia: novel mutations in the REEP1 gene (SPG31). BMC ...
    https://medlineplus.gov/genetics/gene/reep1 - Genetics
  6. L1 syndrome 
    L1 syndrome describes a group of conditions that primarily affect the nervous system and occur almost exclusively in males. These conditions vary in severity ...
    https://medlineplus.gov/genetics/condition/l1-syndrome - Genetics
  7. Spastic paraplegia type 11 
    ... sound. Spastic paraplegia type 11 is a complex hereditary spastic paraplegia.Like all hereditary spastic paraplegias, spastic paraplegia type ... and thin corpus callosum HSP-TCC SPG11-related hereditary spastic paraplegia with thin corpus callosum Genetic Testing Registry: Hereditary ...
    https://medlineplus.gov/.../condition/spastic-paraplegia-type-11 - Genetics
  8. Infantile-onset ascending hereditary spastic paralysis 
    ... ascending hereditary spastic paralysis starts as a pure hereditary spastic paraplegia, with spasticity and weakness in the legs only, ... Infantile onset ascending spastic paralysis Infantile-onset ascending hereditary spastic paraplegia ... Genetic Testing Registry: Hereditary spastic paraplegia Genetic Testing ...
    https://medlineplus.gov/...et-ascending-hereditary-spastic-paralysis - Genetics
  9. SPG11 gene 
    ... mutations are common in familial cases of complicated hereditary spastic paraplegia. Neurology. 2008 Apr 15;70(16 Pt 2): ... H. Clinical heterogeneity and genotype-phenotype correlations in hereditary spastic paraplegia because of Spatacsin mutations (SPG11). Eur J Neurol. ...
    https://medlineplus.gov/genetics/gene/spg11 - Genetics
  10. GJC2 gene 
    ... Lamantea E, Zeviani M, Scherer SS, Pareyson D. Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutations. ...
    https://medlineplus.gov/genetics/gene/gjc2 - Genetics
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