sriram_jayabal Posted July 14, 2016 Share Posted July 14, 2016 Material below summarizes the article, Rapid Onset of Motor Deficits in a Mouse Model of Spinocerebellar Ataxia Type 6 Precedes Late Cerebellar Degeneration, published on December 3, 2015 in eNeuro and authored by Sriram Jayabal, Lovisa Ljungberg, Thomas Erwes, Alexander Cormier, Sabrina Quilez, Sara El Jaouhari, and Alanna J. Watt.Spinocerebellar ataxia type 6 (SCA6) is a rare neurological disorder that typically manifests at mid-life and leads to progressive gait abnormalities. SCA6 is caused by a mutation in the CACNA1A gene that encodes the P/Q-type calcium channel. The P/Q channel is richly expressed in the cerebellum, the “little brain” at the base of the brain that is involved in motor coordination and motor learning. Purkinje cells are the principal cells of the cerebellum and are essential for its proper functioning. We know from postmortem studies that Purkinje cells undergo degeneration in SCA6, which may underlie symptoms of ataxia, or loss of motor control.Link back to full article Link to comment Share on other sites More sharing options...
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