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Comment & Response
October 2016

Spectrum of Movement Disorders in Mitochondrial Disorders–Reply

Author Affiliations
  • 1Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, England
  • 2Division of Clinical Neurosciences, University of Turku and Turku University Hospital, Turku, Finland

Copyright 2016 American Medical Association. All Rights Reserved. Applicable FARS/DFARS Restrictions Apply to Government Use.

JAMA Neurol. 2016;73(10):1254-1255. doi:10.1001/jamaneurol.2016.2578

In Reply Finsterer and Zarrouk-Mahjoub list movement disorders not mentioned in our article1; however, we would question their relevance. The article they referenced by Gimelli et al2 reports 4 cases of inherited Tourette syndrome. Although the protein localizes to mitochondria, no evidence of mitochondrial dysfunction suggestive of an oxidative phosphorylation defect is provided; indeed, we are not aware of any definite Tourette syndrome cases related to primary mitochondrial disorders. The other article they referenced by van Rossum and ten Houten3 describes a patient with the m.3243A>G mutation and tics that “consisted of blinking of the eyes, movement [of] the head and the rubbing of the chin along the shoulder,” features suggesting seizure semiology rather than a tic disorder, particularly given the high prevalence of epilepsy in this genotype4 and that the patient had documented epilepsy.

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