Paraplegia spastica ereditaria, epilessia e ritardo mentale: Descrizione di nuove famiglie

In a recent paper, we reported a novel genetic disorder characterised by spastic paraplegia, epilepsy and mental retardation in nine members o f four generations of a family. We present now a second family with three members affected in two generations. We suggest that the association of epilepsy and spastic paraplegia should be searched in mentally retarded subjects with features of generalised idiopathic epilepsy and walking disabilities, and that linkage studies should be continued as additional loci are identified.