Kearns-Sayre syndrome in twins: lethal dominant mutation or acquired disease?

We studied twin brothers who met all diagnostic criteria for the Kearns-Sayre syndrome (KSS). The twins reinforce the view that KSS is a specific syndrome. They raise the possibility that the condition is inherited as a lethal dominant trait, a mode of inheritance that explains the observed paucity...

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Bibliographic Details
Published inNeurology Vol. 38; no. 9; p. 1399
Main Authors Rowland, L P, Hausmanowa-Petrusewicz, I, Bardurska, B, Warburton, D, Nibroj-Dobosz, I, DiMauro, S, Pallai, M, Johnson, W G
Format Journal Article
LanguageEnglish
Published United States 01.09.1988
Subjects
Adult
Age Factors
Diseases in Twins
Genetic Diseases, Inborn - genetics
Humans
Kearns-Sayre Syndrome - etiology
Kearns-Sayre Syndrome - genetics
Male
Ophthalmoplegia - genetics
Twins, Monozygotic
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Summary:We studied twin brothers who met all diagnostic criteria for the Kearns-Sayre syndrome (KSS). The twins reinforce the view that KSS is a specific syndrome. They raise the possibility that the condition is inherited as a lethal dominant trait, a mode of inheritance that explains the observed paucity of familial cases. However, these cases do not exclude the possibility of an acquired cause, such as persistent viral infection of the brain.
ISSN:0028-3878
DOI:10.1212/WNL.38.9.1399