Spastic paraplegia, epilepsy, and mental retardation in several members of a family: a novel genetic disorder
- PMID: 8456849
- DOI: 10.1002/ajmg.1320450610
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.
Similar articles
-
Hereditary spastic paraplegia associated with epilepsy, mental retardation and hearing impairment.Paraplegia. 1993 Jun;31(6):408-11. doi: 10.1038/sc.1993.68. Paraplegia. 1993. PMID: 8337006
-
A Korean kindred with autosomal dominant nocturnal frontal lobe epilepsy and mental retardation.Arch Neurol. 2003 Nov;60(11):1625-32. doi: 10.1001/archneur.60.11.1625. Arch Neurol. 2003. PMID: 14623738
-
[A case of autosomal dominant, pure form spastic paraplegia with thinning of the corpus callosum].Rinsho Shinkeigaku. 1998 May;38(5):435-9. Rinsho Shinkeigaku. 1998. PMID: 9805990 Japanese.
-
[A new type of complicated form of hereditary spastic paraplegia showing mental deterioration, quadriplegia with muscular atrophy, sensory disturbance, extrapyramidal disorders, and epilepsy].Rinsho Shinkeigaku. 1991 Sep;31(9):945-52. Rinsho Shinkeigaku. 1991. PMID: 1769157 Review. Japanese.
-
Jancar syndrome: mental retardation, spasticity, and distal transverse limbs defects.Am J Med Genet. 1993 Aug 1;47(1):89-90. doi: 10.1002/ajmg.1320470118. Am J Med Genet. 1993. PMID: 8368260 Review.
Cited by
-
Genetic mapping to 10q23.3-q24.2, in a large Italian pedigree, of a new syndrome showing bilateral cataracts, gastroesophageal reflux, and spastic paraparesis with amyotrophy.Am J Hum Genet. 1999 Feb;64(2):586-93. doi: 10.1086/302241. Am J Hum Genet. 1999. PMID: 9973297 Free PMC article.
-
Hereditary spastic paraparesis: a review of new developments.J Neurol Neurosurg Psychiatry. 2000 Aug;69(2):150-60. doi: 10.1136/jnnp.69.2.150. J Neurol Neurosurg Psychiatry. 2000. PMID: 10896685 Free PMC article. Review. No abstract available.
-
The Silver syndrome variant of hereditary spastic paraplegia maps to chromosome 11q12-q14, with evidence for genetic heterogeneity within this subtype.Am J Hum Genet. 2001 Jul;69(1):209-15. doi: 10.1086/321267. Epub 2001 May 25. Am J Hum Genet. 2001. PMID: 11389484 Free PMC article.
-
A clinical, genetic and candidate gene study of Silver syndrome, a complicated form of hereditary spastic paraplegia.J Neurol. 2004 Sep;251(9):1068-74. doi: 10.1007/s00415-004-0401-8. J Neurol. 2004. PMID: 15372247
-
Spastic paraplegia, optic atrophy, microcephaly with normal intelligence, and XY sex reversal: a new autosomal recessive syndrome?J Med Genet. 1998 Sep;35(9):759-62. doi: 10.1136/jmg.35.9.759. J Med Genet. 1998. PMID: 9733035 Free PMC article.
Publication types
MeSH terms
LinkOut - more resources
Full Text Sources
Molecular Biology Databases