Association of an ataxia indistinguishable from Friedreich's ataxia and congenital glaucoma in a family: a new syndrome.
An inbred family is described in which three sibs have congenital glaucoma and two of them also have an ataxia indistinguishable from Friedreich's ataxia. The association between these two disorders has not previously been reported. The genetic mechanisms of this association are discussed.
Combarros
O
O
Department of Medicine (Section of Neurology), National Hospital Marqués de Valdecilla, Faculty of Medicine, Santander, Spain.
Calleja
J
J
Leno
C
C
Berciano
J
J
D000293:Adolescent; D000328:Adult; D005260:Female; D005621:Friedreich Ataxia / Q000235:genetics*; D005901:Glaucoma / Q000151:congenital / Q000235:genetics*; D006801:Humans; D008297:Male; D010375:Pedigree; D013577:Syndrome