Benign adult familial myoclonus epilepsy (BAFME): an autosomal dominant form not linked to the dentatorubral pallidoluysian atrophy (DRPLA) gene

A Kuwano; F Takakubo; Y Morimoto; E Uyama; M Uchino; M Ando; T Yasuda; A Terao; T Hayama; R Kobayashi; I Kondo

doi:10.1136/jmg.33.1.80

Benign adult familial myoclonus epilepsy (BAFME): an autosomal dominant form not linked to the dentatorubral pallidoluysian atrophy (DRPLA) gene

J Med Genet. 1996 Jan;33(1):80-1. doi: 10.1136/jmg.33.1.80.

Authors

A Kuwano¹, F Takakubo, Y Morimoto, E Uyama, M Uchino, M Ando, T Yasuda, A Terao, T Hayama, R Kobayashi, I Kondo

Affiliation

¹ Department of Hygiene, Ehime University School of Medicine, Japan.

Abstract

The genetic differences between two types of dominant inherited myoclonus epilepsy, dentatorubral pallidoluysian atrophy (DRPLA) and benign adult familial myoclonus epilepsy (BAFME), have been reported. A gene with a CAG repeat expansion responsible for DRPLA has been isolated. We have examined CAG repeat expansion in the DRPLA gene in five BAFME families, and the abnormal CAG expansion was not observed in the affected subjects. Linkage analysis using DNA polymorphisms in the DRPLA gene and the genes for gamma-aminobutyric acid (GABA) receptor subunits, GABAR beta 1, GABAR beta 3, and GABAR alpha 6, showed that these genes were not responsible for BAFME.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Atrophy / genetics
Chromosome Aberrations / genetics
Chromosome Disorders
Epilepsies, Myoclonic / genetics*
Female
Genes, Dominant / genetics
Genetic Diseases, Inborn / genetics*
Humans
Male
Nervous System Diseases / genetics*
Pedigree
Receptors, GABA / genetics*
Trinucleotide Repeats / genetics*

Substances

Receptors, GABA