SPASTIC PARAPLEGIA, EPILEPSY, AND MENTAL-RETARDATION IN SEVERAL MEMBERS OF A FAMILY - A NOVEL GENETIC DISORDER

被引：19

作者：

GIGLI, GL

DIOMEDI, M

BERNARDI, G

PLACIDI, F

MARCIANI, MG

CALIA, E

MASCHIO, MCE

NERI, G

机构：

[1] IRCCS, CLIN S LUCIA, ROME, ITALY

[2] UCSC, FAC MED A GEMELLI, IST GENET MED, ROME, ITALY

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1993年 / 45卷 / 06期

关键词：

HEREDITARY SPASTIC PARAPLEGIA; GENERALIZED IDIOPATHIC EPILEPSY; AUTOSOMAL DOMINANT TRANSMISSION;

D O I：

10.1002/ajmg.1320450610

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页码：711 / 716

页数：6