Rapid onset of motor deficits in a mouse model of spinocerebellar ataxia type 6 precedes late cerebellar degeneration , , Ataxia onset prior to neurodegeneration in SCA 6

نویسندگان

  • Sriram Jayabal
  • Lovisa Ljungberg
  • Thomas Erwes
  • Alexander Cormier
  • Sabrina Quilez
  • Sara El Jaouhari
  • Alanna J. Watt
چکیده

Author Contributions: Research was designed by SJ, TE, LL, and AJW. Behavioral experiments were performed by TE, AC, SJ, SEJ, and SQ, and analyzed by SJ, AC, SQ, and AJW; immunocytochemistry and imaging were performed by LL, SJ, and AJW, and analyzed by LL, SQ, and SJ. Paper was written by SJ and AJW. Funding: Canadian Institutes of Health Research (CIHR): 130570. Canadian Foundation for Innovation: 29127. Royal Society (UK); McGill University; Conflict of Interest: The authors declare no competing conflict of interest. Correspondence should be addressed to: Alanna J. Watt, Department of Biology, McGill University, Bellini Life Sciences Complex, 3649 Sir William Osler, Montreal, QC, H3G 0B1, Canada. Tel: (514) 398-2806. [email protected] Cite as: eNeuro 2015; 10.1523/ENEURO.0094-15.2015

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Rapid Onset of Motor Deficits in a Mouse Model of Spinocerebellar Ataxia Type 6 Precedes Late Cerebellar Degeneration.

Spinocerebellar ataxia type 6 (SCA6) is an autosomal-dominant cerebellar ataxia that has been associated with loss of cerebellar Purkinje cells. Disease onset is typically at midlife, although it can vary widely from late teens to old age in SCA6 patients. Our study focused on an SCA6 knock-in mouse model with a hyper-expanded (84X) CAG repeat expansion that displays midlife-onset motor deficit...

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Spinocerebellar ataxia type 6 (SCA6) is a devastating midlife-onset autosomal dominant motor control disease with no known treatment. Using a hyper-expanded polyglutamine (84Q) knock-in mouse, we found that cerebellar Purkinje cell firing precision was degraded in heterozygous (SCA6(84Q/+)) mice at 19 months when motor deficits are observed. Similar alterations in firing precision and motor con...

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تاریخ انتشار 2015