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.
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.
Authors: C Depienne; C Tallaksen; J Y Lephay; B Bricka; S Poea-Guyon; B Fontaine; P Labauge; A Brice; A Durr Journal: J Med Genet Date: 2005-07-31 Impact factor: 6.318
Authors: Roshan Koul; Fathiya M Al-Murshedi; Faisal M Al-Azri; Ranjit Mani; Rana A Abdelrahim; Vivek Koul; Amna M Alfutaisi Journal: Sultan Qaboos Univ Med J Date: 2013-06-25