Cytoplasmic and nuclear polyglutamine aggregates in SCA6 Purkinje cells
- 26 June 2001
- journal article
- Published by Wolters Kluwer Health in Neurology
- Vol. 56 (12) , 1753-1756
- https://doi.org/10.1212/wnl.56.12.1753
Abstract
Aggregations of the alpha1A-calcium channel protein have been previously demonstrated in spinocerebellar ataxia type 6 (SCA6). Here the authors show that small aggregates, labeled by a monoclonal antibody 1C2 that preferentially detects expanded polyglutamine larger than that in SCA6 mutation, are present mainly in the cytoplasm but also in the nucleus of Purkinje cells. Although the length of expansion is small in SCA6, the current finding might indicate that SCA6 conforms to the pathogenic mechanism(s) in other polyglutamine diseases.Keywords
This publication has 10 references indexed in Scilit:
- Expanded polyglutamine stretches interact with TAFII130, interfering with CREB-dependent transcriptionNature Genetics, 2000
- Nuclear localization or inclusion body formation of ataxin-2 are not necessary for SCA2 pathogenesis in mouse or humanNature Genetics, 2000
- Spinocerebellar Ataxia Type 6 Mutation Alters P-type Calcium Channel FunctionJournal of Biological Chemistry, 2000
- Clinical, neuropathological, and molecular study in two families with spinocerebellar ataxia type 6 (SCA6)Journal of Neurology, Neurosurgery & Psychiatry, 1999
- Abundant expression and cytoplasmic aggregations of alpha1A voltage-dependent calcium channel protein associated with neurodegeneration in spinocerebellar ataxia type 6Human Molecular Genetics, 1999
- Recruitment and the Role of Nuclear Localization in Polyglutamine-mediated AggregationThe Journal of cell biology, 1998
- Are neuronal intranuclear inclusions the common neuropathology of triplet-repeat disorders with polyglutamine-repeat expansions?The Lancet, 1998
- Japanese Families with Autosomal Dominant Pure Cerebellar Ataxia Map to Chromosome 19p13.1-p13.2 and Are Strongly Associated with Mild CAG Expansions in the Spinocerebellar Ataxia Type 6 Gene in Chromosome 19p13.1American Journal of Human Genetics, 1997
- Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the α1A-voltage-dependent calcium channelNature Genetics, 1997
- Polyglutamine expansion as a pathological epitope in Huntington's disease and four dominant cerebellar ataxiasNature, 1995