Emerging pathogenic pathways in the spinocerebellar ataxias

Kerri M. Carlson, J. Michael Andresen, Harry T. Orr

Research output: Contribution to journalReview articlepeer-review

58 Scopus citations

Abstract

The spinocerebellar ataxias (SCAs) are diseases characterized by neurodegeneration of the spinocerebellum. To date, 28 autosomal dominant SCAs have been described and seventeen causative genes identified. These genes play a role in a broad range of cellular processes. Recent studies focused on the wild type and pathogenic functions of these genes implicate both gene expression and glutamate-dependent and calcium-dependent neuronal signaling as important pathways leading to cerebellar dysfunction. Understanding how these genes cause disease will allow a deeper understanding of the cerebellum in particular as well as neurodegenerative disease in general.

Original languageEnglish (US)
Pages (from-to)247-253
Number of pages7
JournalCurrent Opinion in Genetics and Development
Volume19
Issue number3
DOIs
StatePublished - Jun 2009

Bibliographical note

Funding Information:
This work was supported by the National Institute of Health grants NS022920 and NS045667 (HTO).

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