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A Novel Central Nervous System–Enriched Spinocerebellar Ataxia Type 7 Gene Product
David D. Einum, PhD;
Anna M. Clark, PhD;
Jeannette J. Townsend, MD;
Louis J. Ptacek, MD;
Ying-Hui Fu, PhD
Arch Neurol. 2003;60:97-103.
Context Polyglutamine-mediated neurodegeneration in spinocerebellar ataxia type 7 (SCA7) involves specific central nervous system structures despite widespread expression of the mutant ataxin-7 protein.
Objective To determine whether expression of multiple gene products could contribute to selective neurodegeneration in SCA7.
Results We identified a novel SCA7 transcript and protein, both of which are enriched within the central nervous system. An isoform-specific antibody revealed that the novel ataxin-7 variant, in contrast with the previously described protein, localizes to neuronal cytoplasm and not to inclusion bodies present within the tissues of patients with SCA7.
Conclusions In addition to expanding our understanding of SCA7 gene expression, identification of a novel ataxin-7 protein enriched in the central nervous system suggests that expression of multiple polyglutamine-containing proteins may play a role in generating the neurodegenerative patterns characteristic of SCA7 and other polyglutamine expansion diseases.
From the Department of Human Genetics (Drs Einum and Ptacek), the Howard Hughes Medical Institute (Drs Clark and Ptacek), and the Departments of Pathology (Dr Townsend), and Neurology (Dr Ptacek), University of Utah, Salt Lake City; and the Department of Neurology, University of California–San Francisco, (Dr Fu).
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