Pallidal activity in myoclonus dystonia correlates with motor signs.

Abstract

BACKGROUND:

Myoclonus-dystonia related to epsilon-sarcoglycan gene mutations is characterized by myoclonic jerks and mild to moderate dystonia. The role of basal ganglia dysfunction in the pathogenesis is unknown.

METHODS:

Pallidal neuronal activity was recorded in six myoclonus-dystonia and six primary generalized dystonia patients operated on for internal globus pallidus deep brain stimulation.

RESULTS:

In myoclonus-dystonia patients compared with primary-dystonia patients, internal pallidum neurons showed higher burst frequency, lower mean burst, and pause durations. External pallidum neurons showed higher mean pause frequency. Oscillatory activity was present in 33% and 35% of internal pallidum neurons in myoclonus-dystonia and primary-dystonia patients, respectively, predominantly in the theta frequency band (3-8 Hz). In myoclonus-dystonia patients with more severe myoclonus, internal pallidum neurons exhibited a higher bursting activity with high intraburst frequency and lower oscillatory activity frequency.

CONCLUSIONS:

Myoclonus-dystonia appears to be related to specific changes in internal pallidum activity, leading to disruption in striato-pallido-thalamo-cortical circuits. © 2015 International Parkinson and Movement Disorder Society.

• Authors: Marie-Laure Welter, David Grabli, Carine Karachi, Nicolas Jodoin, Sara Fernandez-Vidal, Yohann Brun, Soledad Navarro, Alister Rogers, Philippe Cornu, Bernard Pidoux, Jérôme Yelnik, Emmanuel Roze, Eric Bardinet, Marie Vidailhet
• Journal: Movement disorders : official journal of the Movement Disorder Society (Mov Disord) Vol. 30 Issue 7 Pg. 992-6 (Jun 2015) ISSN: 1531-8257 [Electronic] United States
• PMID: 25880339 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: © 2015 International Parkinson and Movement Disorder Society.

Topics

• Clinical Trials as Topic
• Dystonic Disorders (physiopathology)
• Globus Pallidus (physiopathology)
• Humans
• Neurons (physiology)