We present a family in which an association between hereditary spastic paraplegia and generalized idiopathic epilepsy has been observed in several members of one family. The transmission of this disorder was autosomal dominant with incomplete penetrance and variable expressivity. Epilepsy was present in members of 3 of the 4 generations on which we have information. This association probably represents the pleitropic effect of a single mutant gene.
|Translated title of the contribution||Hereditary spastic paraplegia, generalized idiopathic epilepsy in several members of a family: A novel genetic disorder|
|Number of pages||3|
|Journal||Bollettino - Lega Italiana contro l'Epilessia|
|Publication status||Published - 1992|
ASJC Scopus subject areas
- Clinical Neurology