This Article  • Full text  • PDF  • Reply to article  • Send to a friend  • Save in My Folder  • Save to citation manager  • Permissions  Citing Articles  • Citation map  • Citing articles on ISI (3)  • Contact me when this article is cited  Related Content  • Similar articles in this journal  Topic Collections  • Neurogenetics  • Genetic Counseling/ Testing/ Therapy  • Alert me on articles by topic  Social Bookmarking   What's this?

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).

CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati     What's this?