Characteristic Head Drops and Axial Extension in Advanced Chorea-Acanthocytosis
Identifieur interne : 002334 ( PascalFrancis/Curation ); précédent : 002333; suivant : 002335Characteristic Head Drops and Axial Extension in Advanced Chorea-Acanthocytosis
Auteurs : Susanne A. Schneider [Royaume-Uni, Allemagne] ; Anthony E. Lang [Canada] ; Elena Moro [Canada] ; Benedikt Bader [Allemagne] ; Adrian Danek [Allemagne] ; Kailash P. Bhatia [Royaume-Uni]Source :
- Movement disorders [ 0885-3185 ] ; 2010.
Descripteurs français
- Pascal (Inist)
English descriptors
- KwdEn :
Abstract
Chorea-acanthocytosis is a rare autosomal recessive neurodegenerative disorder with a complex clinical presentation comprising of a mixed movement disorder (mostly chorea and dystonia), seizures, neuropathy and myopathy, autonomic features as well as dementia and psychiatric features. Because the differential diagnosis is wide, clinical clues and red flags are important. We report here our observation of characteristic neck and trunk flexion and extension spasms in four cases with advanced chorea-acanthocytosis.
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<front><div type="abstract" xml:lang="en">Chorea-acanthocytosis is a rare autosomal recessive neurodegenerative disorder with a complex clinical presentation comprising of a mixed movement disorder (mostly chorea and dystonia), seizures, neuropathy and myopathy, autonomic features as well as dementia and psychiatric features. Because the differential diagnosis is wide, clinical clues and red flags are important. We report here our observation of characteristic neck and trunk flexion and extension spasms in four cases with advanced chorea-acanthocytosis.</div>
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