title: Ataxin 1 and ataxin 3 in neuronal intranuclear inclusion disease.
abstract: Neuronal intranuclear inclusion disease (NIID) is a multisystem neurodegenerative disorder characterized by large intranuclear aggregates in neurons of the central and peripheral nervous system. These ubiquitinated intranuclear inclusions are morphologically similar to the intraneuronal aggregates that have been identified in the CAG/polyglutamine expansion diseases. As rare aggregates in NIID contain a polyglutamine epitope, we further investigated the relationship between this disease and the CAG/polyglutamine expansion diseases. Here, we show that ataxin 1 and ataxin 3 proteins are recruited into aggregates in NIID in the absence of a CAG expansion in the SCA1 and SCA3 genes. These data support an association of NIID with the polyglutamine disorders and provide evidence of in vivo recruitment of proteins with polyglutamine tracts into intraneuronal aggregates.
authors.affiliation: Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA.
authors.forename: A P
authors.initials: AP
authors.lastname: Lieberman
authors.forename: J Q
authors.initials: JQ
authors.lastname: Trojanowski
authors.forename: D G
authors.initials: DG
authors.lastname: Leonard
authors.forename: K L
authors.initials: KL
authors.lastname: Chen
authors.forename: J L
authors.initials: JL
authors.lastname: Barnett
authors.forename: J B
authors.initials: JB
authors.lastname: Leverenz
authors.forename: T D
authors.initials: TD
authors.lastname: Bird
authors.forename: Y
authors.initials: Y
authors.lastname: Robitaille
authors.forename: A
authors.initials: A
authors.lastname: Malandrini
authors.forename: K H
authors.initials: KH
authors.lastname: Fischbeck
mesh_terms: D000328:Adult; D000368:Aged; D000067696:Ataxin-1; D000067699:Ataxin-3; D000067528:Ataxins; D005260:Female; D006801:Humans; D007150:Immunohistochemistry; D002479:Inclusion Bodies / Q000737:chemistry*; D008297:Male; D008875:Middle Aged; D009419:Nerve Tissue Proteins / Q000032:analysis*; D019636:Neurodegenerative Diseases / Q000235:genetics / Q000473:pathology*; D009687:Nuclear Proteins / Q000032:analysis*; D012097:Repressor Proteins; D018911:Trinucleotide Repeats
chemical_list: C000593749:ATXN1 protein, human; D000067696:Ataxin-1; D000067528:Ataxins; D009419:Nerve Tissue Proteins; D009687:Nuclear Proteins; D012097:Repressor Proteins; C092341:ATXN3 protein, human; D000067699:Ataxin-3