A family with hereditary spastic paraparesis and epilepsy

Epilepsia. 1997 Apr;38(4):495-9. doi: 10.1111/j.1528-1157.1997.tb01741.x.


Purpose: We describe a family with hereditary spastic paraparesis (HSP) in which 4 of 6 affected members also have epilepsy.

Methods: All family members were examined by 2 neurologists. Four affected and 3 unaffected family members had EEG recordings. Four affected members were investigated for other causes of spastic paraparesis and epilepsy.

Results: Epileptic symptoms varied among family members: 1 had complex partial seizures, another had focal myoclonic epilepsy, and 2 had simple partial seizures secondarily generalized. All 4 had clinical or EEG evidence to support a focal origin for the epilepsy, and 2 had photoparoxysal responses on EEG. Symptoms were more severe and occurred earlier in the younger generation, suggesting genetic anticipation in this family. The onset of epilepsy developed simultaneously with, or < or = 18 years before, onset of gait disturbance. Three unaffected family members had normal EEGs.

Conclusions: The association of HSP and epilepsy should no longer be assumed to be fortuitous.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Epilepsy / epidemiology
  • Epilepsy / genetics*
  • Family*
  • Female
  • Humans
  • Ireland / epidemiology
  • Male
  • Pedigree
  • Phenotype
  • Spastic Paraplegia, Hereditary / epidemiology
  • Spastic Paraplegia, Hereditary / genetics*