CINECA IRIS Institutional Research Information System
IRIS è la piattaforma adottata dall’Università degli Studi di Udine per gestire l’archivio aperto dei prodotti della ricerca. L’archivio contiene articoli, contributi in volume, monografie, interventi pubblicati in atti di convegno, Tesi di dottorato e altri materiali.
EnglishWe 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.
| Titolo: | Spastic paraplegia, epilepsy, and mental retardation in several members of a family: a novel genetic disorder | |
| Autori: | ||
| Data di pubblicazione: | 1993 | |
| Rivista: | ||
| 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. | |
| Handle: | http://hdl.handle.net/11390/680774 | |
| Appare nelle tipologie: | 1.1 Articolo in rivista |
File in questo prodotto:
http://hdl.handle.net/11390/680774
Copyright © 2021