Endophenotyping in idiopathic adult onset cervical dystonia

Clinical Neurophysiology : Official Journal of the International Federation of Clinical Neurophysiology
Georg KägiKailash P Bhatia

Abstract

Idiopathic adult onset cervical dystonia (IAOCD) is considered to be a partially penetrant autosomal dominant genetic condition. Dystonia may result from genetic and environmental factors. In this view, part of the physiology should be an endophenotype stemming from the genetic background. We assessed the most discriminative test to separate patients with IAOCD and healthy controls for further endophenotyping in non-affected 1st degree relatives. We included patients with IAOCD, their 1st degree relatives and healthy controls. Tests performed: (1) Sensory temporal discrimination (visual, tactile, visuo-tactile), (2) Paired pulse paradigms using transcranial magnetic stimulation (TMS), (3) Mental rotation paradigms. 45 patients with IAOCD, 23 healthy controls and 14 non-affected 1st degree relatives were recruited. Visuo-tactile temporal discrimination separated best between controls and patients as well as between controls and 1st degree relatives. 36% of the latter had an abnormal visuo-tactile temporal discrimination. No difference between patients and healthy controls was found for the other paradigms. Visuo-tactile temporal discrimination separates controls from patients with IAOCD and its 1st degree relatives. 36% of the l...Continue Reading

Citations

Jul 20, 2019·Movement Disorders : Official Journal of the Movement Disorder Society·Anna LatorreJohn C Rothwell
Nov 15, 2019·Movement Disorders : Official Journal of the Movement Disorder Society·Felix GövertKailash Bhatia
Apr 21, 2020·Journal of Neurology·Massimiliano ConsonMarcello Esposito
Feb 1, 2019·Nature Reviews. Neurology·Antonella ConteAlfredo Berardelli
Sep 27, 2020·Movement Disorders : Official Journal of the Movement Disorder Society·Aleksandra TomićMassimo Filippi
Sep 30, 2020·The European Journal of Neuroscience·Alana B McCambridge, Lynley V Bradnam

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