Author： Agid Y.
Publisher： Oxford University Press
ISSN： 1460-2083
Source： Human Molecular Genetics, Vol.7, Iss.5, 1998-05, pp. : 913-918
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Abstract
Autosomal dominant cerebellar ataxia with progressive macular degeneration is caused by a CAG/glutamine repeat expansion in the SCA7 gene/protein. Neuronal intranuclear inclusions were detected in the brain of an early onset SCA7 case with the 1C2 antibody directed against an expanded polyglutamine domain. Nuclear inclusions were most frequent in the inferior olivary complex, a site of severe neuronal loss in SCA7. They were also observed in other brain regions, including the cerebral cortex, not considered to be affected in the disease. Using confocal microscopy we showed that some inclusions were ubiquitinated, but to varying degrees, ranging from <1% in="" the="" cerebral="" cortex="" to="" 60%="" in="" the="" inferior="" olive.="" in="" addition,="" we="" also="" observed="" cytoplasmic="" staining="" using="" the="" 1c2="" antibody,="" particularly="" in="" the="" supramarginal="" gyrus,="" the="" hippocampus,="" the="" thalamus,="" the="" lateral="" geniculate="" body="" and="" the="" pontine="" nuclei.="" these="" data="" confirm="" that="" the="" presence="" of="" intranuclear="" inclusions="" in="" neurons="" is="" a="" common="" characteristic="" of="" disorders="" caused="" by="" cag/polyglutamine="" expansions,="" but="" unlike="" what="" has="" been="" reported="" for="" huntington's="" disease,="" sca1="" and="" sca3/mjd,="" in="" sca7="" the="" inclusions="" were="" not="" restricted="" to="" the="" sites="" of="" severe="" neuronal="" loss.="">
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