PMID: 11341481May 9, 2001Paper

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

Journal of Neural Transmission
Simona PigulloP Mandich

Abstract

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 might contain a CAG expanded region. In a cohort of Italian ET patients Repeat Expansion Detection (RED) approach did not demonstrate large CAG expansions. We extended the study towards specific targets: the channel proteins hSKCa3 and CACNL1A4. Direct assessment of CAG stretches within these two genes did not demonstrate any CAG expansion in affected subjects. Also a case-control analysis failed to reveal any evidence of association, thus excluding these genes as a cause of ET.

Citations

Oct 16, 2012·Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology·Elena PasiniRoberto Michelucci
Sep 25, 2004·Movement Disorders : Official Journal of the Movement Disorder Society·Ali SazciKemal Bayulkem
Jun 20, 2003·Movement Disorders : Official Journal of the Movement Disorder Society·Simona PigulloPaola Mandich
Jan 19, 2008·American Journal of Medical Genetics. Part a·Jun ZhangDaniele Rigamonti
May 21, 2013·Acta Neurologica Scandinavica·F J Jiménez-JiménezJ A G Agúndez
Feb 7, 2006·Parkinsonism & Related Disorders·Alexander H Rajput, Ali Rajput
Aug 11, 2020·Tremor and Other Hyperkinetic Movements·Vasileios SiokasEfthimios Dardiotis
Jun 3, 2021·Pharmaceuticals·Félix Javier Jiménez-JiménezJosé A G Agúndez

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