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Myoclonus and dystonia in cerebrotendinous xanthomatosis
Movement disorders, 2012-12, Vol.27 (14), p.1805-1810
Lagarde, Julien
Roze, Emmanuel
Apartis, Emmanuelle
Pothalil, Deepa
Sedel, Frédéric
Couvert, Philippe
Vidailhet, Marie
Degos, Bertrand
2012
Volltextzugriff (PDF)
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.
Sprache
Englisch
Identifikatoren
ISSN: 0885-3185
eISSN: 1531-8257
DOI: 10.1002/mds.25206
Titel-ID: cdi_proquest_miscellaneous_1891867651
Format
–
Schlagworte
Adolescent
,
Age of Onset
,
Biological and medical sciences
,
cerebrotendinous xanthomatosis
,
Cognition Disorders - complications
,
Cognition Disorders - genetics
,
dentate nucleus
,
Diseases of striated muscles. Neuromuscular diseases
,
dystonia
,
Dystonia - complications
,
Dystonia - genetics
,
Epilepsy - complications
,
Female
,
Humans
,
Male
,
Medical sciences
,
Movement disorders
,
myoclonus
,
Myoclonus - complications
,
Myoclonus - genetics
,
Neurology
,
Xanthomatosis, Cerebrotendinous - etiology
,
Xanthomatosis, Cerebrotendinous - genetics
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