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Neuroacanthocytosis (NA) is typified by choreiform movements and acanthocytes in the peripheral blood. It comprises four genetically diverse conditions, one of which is chorea-acanthocytosis. The authors describe a 38-year-old woman who presented with facial grimacing, dysphagia and acquired stutter. Chorea-acanthocytosis was eventually confirmed by the finding of bilateral caudate atrophy on MRI brain scan, acanthocytes in the peripheral blood film, increased serum creatine kinase and a low serum chorein level. The authors discuss the clinical features, differential diagnosis and management of chorea-acanthocytosis.
Neuroacanthocytosis (NA) is a rarely reported syndrome affecting the nervous system, first described by Bassen and Kornzweig in 1950.1 NA comprises four genetically diverse conditions: the two core conditions are chorea-acanthocytosis and the McLeod syndrome, but acanthocytes also characterise two other neurological conditions, pantothenate kinase-associated neurodegeneration and Huntington's disease (HD)-like 2.2 3
We describe a case of chorea-acanthocytosis, an autosomal recessive disorder, estimated to affect about 1000 people worldwide, with a mean age of symptom onset of around 35 years. It manifests as a progressive movement disorder that usually includes chorea, seizures, behavioural and cognitive disorders, peripheral neuropathy and (often subclinical) myopathy. Oral-lingual dystonia is a noticeable feature, often resulting in mouth or tongue lacerations. Prominent tongue protrusion dystonia, sometimes causing extrusion of food, is a useful pointer towards the diagnosis.
A 38-year-old woman of Pakistani descent presented in 2007, aged 34 years, with a 3-year history of facial grimacing, dysphagia and acquired stutter. The problem had started following the birth of her second child. She complained of memory difficulties, depressive symptoms, loss of appetite, intermittent chest pain and shortness of breath. She avoided dining in public and had stopped working as a catering assistant 1 year previously, although she was able to perform her activities of daily living.
When aged 2 years she had developed …
Competing interests None.
Provenance and peer review Commissioned; externally peer reviewed.