Myoclonus and dystonia in cerebrotendinous xanthomatosis.
Identifieur interne : 000D01 ( Main/Exploration ); précédent : 000D00; suivant : 000D02Myoclonus and dystonia in cerebrotendinous xanthomatosis.
Auteurs : Julien Lagarde [France] ; Emmanuel Roze ; Emmanuelle Apartis ; Deepa Pothalil ; Frédéric Sedel ; Philippe Couvert ; Marie Vidailhet ; Bertrand DegosSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2012.
English descriptors
- KwdEn :
- Adolescent, Age of Onset, Cognition Disorders (complications), Cognition Disorders (genetics), Dystonia (complications), Dystonia (genetics), Epilepsy (complications), Female, Humans, Male, Myoclonus (complications), Myoclonus (genetics), Xanthomatosis, Cerebrotendinous (etiology), Xanthomatosis, Cerebrotendinous (genetics).
- MESH :
- complications : Cognition Disorders, Dystonia, Epilepsy, Myoclonus.
- etiology : Xanthomatosis, Cerebrotendinous.
- genetics : Cognition Disorders, Dystonia, Myoclonus, Xanthomatosis, Cerebrotendinous.
- Adolescent, Age of Onset, Female, Humans, Male.
Abstract
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.
DOI: 10.1002/mds.25206
PubMed: 23115103
Affiliations:
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Le document en format XML
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<front><div type="abstract" xml:lang="en">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.</div>
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