Spastic paraplegia, epilepsy, and mental retardation in several members of a family: A novel genetic disorder

G. L. Gigli, M. Diomedi, G. Bernardi, F. Placidi, M. G. Marciani, E. Calia, M. C E Maschio, G. Neri

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)711-716
Number of pages6
JournalAmerican Journal of Medical Genetics
Volume45
Issue number6
Publication statusPublished - 1993

Keywords

  • autosomal dominant transmission
  • generalized idiopathic epilepsy
  • hereditary spastic paraplegia

ASJC Scopus subject areas

  • Genetics(clinical)

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