title: Spastic paraplegia, epilepsy, and mental retardation in several members of a family: a novel genetic disorder.
abstract: We report on a family in which an association between spastic paraplegia and epilepsy has been observed. This disorder is an autosomal dominant trait with incomplete penetrance and variable expressivity. The onset was limited to the first four decades of life; the symptoms were typically those of progressive weakness and spasticity of lower limbs. Epilepsy was present in members of three of the four generations on whom we have information. The concomitance of spastic paraplegia and epilepsy in several members of the same family is unlikely to be fortuitous and probably represents the pleiotropic effect of a single mutant gene.
authors.affiliation: Clinica Neurologica, Università Tor Vergata di Roma, Italy.
authors.forename: G L
authors.initials: GL
authors.lastname: Gigli
authors.forename: M
authors.initials: M
authors.lastname: Diomedi
authors.forename: G
authors.initials: G
authors.lastname: Bernardi
authors.forename: F
authors.initials: F
authors.lastname: Placidi
authors.forename: M G
authors.initials: MG
authors.lastname: Marciani
authors.forename: E
authors.initials: E
authors.lastname: Calia
authors.forename: M C
authors.initials: MC
authors.lastname: Maschio
authors.forename: G
authors.initials: G
authors.lastname: Neri
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D004569:Electroencephalography; D004829:Epilepsy, Generalized / Q000150:complications / Q000235:genetics* / Q000503:physiopathology; D005074:Evoked Potentials, Visual; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D008607:Intellectual Disability / Q000150:complications / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D010264:Paraplegia / Q000150:complications / Q000235:genetics*; D010375:Pedigree