Characteristic head drops and axial extension in advanced chorea-acanthocytosis.
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.
Schneider
Susanne A
SA
Sobell Department of Motor Neuroscience and Movement Disorders, UCL, Institute of Neurology, Queen Square, London, United Kingdom.
Lang
Anthony E
AE
Moro
Elena
E
Bader
Benedikt
B
Danek
Adrian
A
Bhatia
Kailash P
KP
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