A family with hereditary spastic paraparesis and epilepsy

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 bad 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 ≤ 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.