title: Myoclonus and dystonia in cerebrotendinous xanthomatosis.
abstract: 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.
authors.affiliation: AP-HP Département de Neurologie, Hôpital de la Salpêtrière, Paris, France.
authors.forename: Julien
authors.initials: J
authors.lastname: Lagarde
authors.forename: Emmanuel
authors.initials: E
authors.lastname: Roze
authors.forename: Emmanuelle
authors.initials: E
authors.lastname: Apartis
authors.forename: Deepa
authors.initials: D
authors.lastname: Pothalil
authors.forename: Frédéric
authors.initials: F
authors.lastname: Sedel
authors.forename: Philippe
authors.initials: P
authors.lastname: Couvert
authors.forename: Marie
authors.initials: M
authors.lastname: Vidailhet
authors.forename: Bertrand
authors.initials: B
authors.lastname: Degos
mesh_terms: D000293:Adolescent; D017668:Age of Onset; D003072:Cognition Disorders / Q000150:complications / Q000235:genetics; D004421:Dystonia / Q000150:complications* / Q000235:genetics; D004827:Epilepsy / Q000150:complications; D005260:Female; D006801:Humans; D008297:Male; D009207:Myoclonus / Q000150:complications* / Q000235:genetics; D019294:Xanthomatosis, Cerebrotendinous / Q000209:etiology* / Q000235:genetics