Abstract
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.
| Translated title of the contribution | Spastic paraplegia, epilepsy and mental retardation: Report of new families |
|---|---|
| Original language | Italian |
| Pages (from-to) | 309-310 |
| Number of pages | 2 |
| Journal | Bollettino - Lega Italiana contro l'Epilessia |
| Issue number | 95-96 |
| Publication status | Published - 1996 |
ASJC Scopus subject areas
- Clinical Neurology
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Cite this
Gigli, G. L., Diomedi, M., Garofalo, P. G., Durisotti, C., Filati-Roso, C., & Bernardi, G. (1996). Paraplegia spastica ereditaria, epilessia e ritardo mentale: Descrizione di nuove famiglie. Bollettino - Lega Italiana contro l'Epilessia, (95-96), 309-310.