Details

Autor(en) / Beteiligte

• Lagarde, Julien
• Roze, Emmanuel
• Apartis, Emmanuelle
• Pothalil, Deepa
• Sedel, Frédéric
• Couvert, Philippe
• Vidailhet, Marie
• Degos, Bertrand

Titel

Myoclonus and dystonia in cerebrotendinous xanthomatosis

Ist Teil von

• Movement disorders, 2012-12, Vol.27 (14), p.1805-1810

Ort / Verlag

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

Erscheinungsjahr

2012

Quelle

MEDLINE

Beschreibungen/Notizen

• Background: 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. Methods: 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. Results: 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. Conclusions: 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.