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Cerebellar and Spinocerebellar Disorders
Simon R. Hammans, in Practical Guide to Neurogenetics, 2009Pathophysiology
Pathophysiology is dependent on the particular genetic defect, but ADCAs caused by CAG repeats have features in common. CAG repeats and the resulting polyglutamine repeats are discussed in Chapter 1. In SCA1, as in several other polyglutamine diseases, the mutant protein aggregates as an abnormal nuclear inclusion. Aggregations are seen when the repeat exceeds a critical number. In the case of SCA1 this is between 39 and 44 depending on whether the CAG repeat is pure or has CAT interruptions. Nuclear inclusions also contain cellular protein refolding and degradation machinery – chaperones, ubiquitin, and proteosomal subunits. It is likely that impaired protein clearance underlies the pathogenesis of SCA1 and some other CAG diseases.