FAMILIAL MYOCLONIC EPILEPSY WITH ATAXIA AND NEUROPATHY WITH ADDITIONAL FEATURES OF FRIEDREICH'S ATAXIA AND PERONEAL MUSCULAR ATROPHY

A family is described in which a mother and three of her five children showed myoclonic epilepsy. The mother and one son were also ataxic; one other son had additional features of Friedreich's ataxia, and a daughter had peroneal muscular atrophy as well as myoclonic epilepsy and ataxia. Althoug...

Full description

Saved in:
Bibliographic Details
Published in:Brain (London, England : 1878) England : 1878), 1978-09, Vol.101 (3), p.461-472
Main Authors: SMITH, N. J., ESPIR, M. L. E., MATTHEWS, W. B.
Format: Article
Language:English
Subjects:
Adult
Ataxia - genetics
Charcot-Marie-Tooth Disease - genetics
Electroencephalography
Epilepsies, Myoclonic - diagnosis
Epilepsies, Myoclonic - genetics
Female
Friedreich Ataxia - genetics
Genes, Dominant
Humans
Male
Pedigree
Syndrome
Citations: Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:A family is described in which a mother and three of her five children showed myoclonic epilepsy. The mother and one son were also ataxic; one other son had additional features of Friedreich's ataxia, and a daughter had peroneal muscular atrophy as well as myoclonic epilepsy and ataxia. Although some of these disorders have been associated in previously reported families, the occurrence of all three disorders in members of one family seems to be unique. It is concluded that this family shows the manifestations of one, probably dominant, gene. The differences in age of onset and manifestations may be explained by the action of one or more subsidiary genes.
ISSN:0006-8950
1460-2156
DOI:10.1093/brain/101.3.461