Abstract
Cortical cerebellar atrophy (CCA) contains hereditary spinocerebellar degeneration (hSCD) and genetic testing is necessary for an accurate diagnosis. Screening for frequent hSCDs (triplet repeat disease and SCA31) was performed. Panel analysis and whole exome analysis using a next-generation sequencer were also performed. The Japan Consortium for Ataxias, J-CAT, contributes to the elucidation of the genetic epidemiology of CCA. The elucidation of CCA would be promoted by comprehensive gene analysis, including whole genome analysis.
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