title: Characteristic head drops and axial extension in advanced chorea-acanthocytosis.
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.
authors.affiliation: Sobell Department of Motor Neuroscience and Movement Disorders, UCL, Institute of Neurology, Queen Square, London, United Kingdom.
authors.forename: Susanne A
authors.initials: SA
authors.lastname: Schneider
authors.forename: Anthony E
authors.initials: AE
authors.lastname: Lang
authors.forename: Elena
authors.initials: E
authors.lastname: Moro
authors.forename: Benedikt
authors.initials: B
authors.lastname: Bader
authors.forename: Adrian
authors.initials: A
authors.lastname: Danek
authors.forename: Kailash P
authors.initials: KP
authors.lastname: Bhatia
mesh_terms: D000328:Adult; D005500:Follow-Up Studies; D019416:Head Movements / Q000502:physiology*; D006801:Humans; D008875:Middle Aged; D054546:Neuroacanthocytosis / Q000150:complications* / Q000473:pathology*; D013035:Spasm / Q000209:etiology