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familial spastic paraplegia

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This is a hereditary neurodegenerative disorder which in its simple form results in a progressive spastic paraplegia. Patients present at any time from childhood to old age.

There are two main forms of the disease:

  • early onset with a very indolent course
  • later onset, 40-60 yrs, with occasional complicating features such as cerebellar ataxia, dementia and epilepsy

There is an important differential diagnosis.


  • 1.Fink JK, Heiman PT, Bird T, et al. Hereditary spastic paraplegia: advances in genetic research. Hereditary Spastic Paraplegia Working group. Neurology 1996;46(6):1507-14.
  • 2.Fink JK. Advances in hereditary spastic paraplegia. Current Opinion in Neurology 1997;10(4):313-8.
  • 3.Raskind WH, Pericak VM, Lennon F, Wolff J, Lipe HP, Bird TD. Familial spastic paraparesis: evaluation of locus heterogeneity, anticipation, and haplotype mapping of the SPG4 locus on the short arm of chromosome 2. American Journal of Medical Genetics 1997;74(1):26-36.


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