LabCAST

SPG3A (atlastin) and SPG4 (spastin): Hereditary Spastic Paraplegia
SessionReferences
  1. Fink, J. Hereditary spastic paraplegia. In: Emery and Rimoin’s Principles and Practice of Medical Genetics, 4th Edition, eds. David L. Rimoin et al., 3124-45. 2001. London:Churchill Livingstone.
  2. Muglia, M. et al., A large family with pure autosomal dominant hereditary spastic paraplegia from southern Italy mapping to chromosome 14q11.2-q24.3. J Neurol 2002; 249:1413-16.
  3. Stapley, C. Spastic Paraplegia or Hereditary Spastic Paraparesis General Information. In: HSPinfo.org 2003. http://hspinfo.org/HSP.htm.
  4. Fink, J.K. Hereditary spastic paraplegia. Neurol Clin N Am 2002; 20:711-26.
  5. Tessa, A. et al., SPG3A, An additional family carrying a new atlastin mutation. Neurology 2002; 59:2002-5.
  6. Zhao, X. et al., Mutations in a newly identified GTPase gene cause autosomal dominant hereditary spastic paraplegia. Nat Genet 2001; 29:326-31.
  7. Fink, J. Hereditary Spastic Paraplegia: The Pace Quickens. Ann Neurol 2002; 51:669-72.
  8. Patel, H. SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia. Nat Genet 2002; 31:347-8.
  9. Hazan, J. et al., Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia.Nat Genet 1999; 23:296-303.
  10. Fink, J. Hereditary spastic paraplegia: Clinical features. In: Hereditary Spastic Paraplegia (HSP) Research 2001. http://www.med.umich.edu/hsp/clinfeatures.htm.
  11. Tallaksen, C. et al., Hereditary Spastic Paraplegia (Spastin/SPG4). In: NeuroCAST 2001. http://www.neurocast.com/site/content/sessions_09_2001.asp.