Relevant conflicts of interest/financial disclosures: Nothing to report.
Article first published online: 31 OCT 2012
Copyright © 2012 Movement Disorder Society
Volume 27, Issue 14, pages 1805–1810, December 2012
How to Cite
Lagarde, J., Roze, E., Apartis, E., Pothalil, D., Sedel, F., Couvert, P., Vidailhet, M. and Degos, B. (2012), Myoclonus and dystonia in cerebrotendinous xanthomatosis. Mov. Disord., 27: 1805–1810. doi: 10.1002/mds.25206
Full financial disclosures and author roles may be found in the online version of this article.
- Issue published online: 31 DEC 2012
- Article first published online: 31 OCT 2012
- Manuscript Accepted: 22 AUG 2012
- Manuscript Revised: 9 AUG 2012
- Manuscript Received: 24 FEB 2012
- dentate nucleus;
- cerebrotendinous xanthomatosis
Cerebrotendinous xanthomatosis (CTX) is an inherited neurometabolic disorder. The main neurological manifestations of the disease are pyramidal syndrome, ataxia, peripheral neuropathy, cognitive impairment, epilepsy, and psychiatric disturbances. Myoclonic dystonia has been reported on in the setting of various neurometabolic diseases. Anecdotal reports describe movement disorders associated with CTX, but no dystonia with myoclonic events.
We collected clinical, biochemical, electrophysiological, neuroradiological, and genetic data of 6 patients with myoclonus and mild dystonia associated with CTX. From a systematic literature review, we analyzed 31 patients with movement disorders secondary to CTX.
Our 6 patients presented distal myoclonus with mild dystonia of the upper limbs. Myoclonus was of subcortical origin, based on neurophysiological recordings, and differed from oromandibular myoclonus previously described in CTX patients.
These results expand the phenotype of CTX and suggest that myoclonus and/or dystonia are underdiagnosed. In keeping with our findings, tremors previously observed in CTX patients might actually correspond to myoclonic events. We hypothesize that a dysfunction of the dentate nuclei-basal ganglia pathway may be involved. © 2012 Movement Disorder Society.