No evidence of association between CAG expansions and essential tremor in a large cohort of Italian patients

Essential tremor (ET) is one of the most common movement disorders. However the pathogenesis is as yet unknown, although a genetic cause has long been recognised. Clinical and molecular evidences suggested that the ET gene mi ght contain a CAG expanded region. In a cohort of Italian ET patients Repea t Expansion Detection (RED) approach did not demonstrate large CAG expansio ns. We extended the study towards specific targets: the channel proteins hS KCa3 and CACNL1A4. Direct assessment of CAG stretches within these two gene s did not demonstrate any CAG expansion in affected subjects. Also a case-c ontrol analysis failed to reveal any evidence of association, thus excludin g these genes as a cause of ET.