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Atlas of Neurology—A Case-based Approach
by Satish V Khadilkar, Kalyan B BhattacharyyaIn this set of video clips, note the classical features of neuroacanthocytosis like, eyebrow raising sign, choreiform movements, food popping out of the mouth and mutilation of the tongue and cheek. One of the patients displays pill-rolling rest tremor due to development of Parkinsonism following chronic tetrabenazine therapy. Acanthocytes were found in the peripheral blood in both the patients and MRI scan showed atrophy of the caudate nucleus. The other condition where similar clinical features and acanthocytes are observed is McLeod’s syndrome, characterized by peripheral neuropathy, cardiomyopathy and hemolytic anemia. Eyebrow raising sign is found in chorea acanthocytosis and Huntington’s disease. Popping out of the food is due to labial and lingual dystonia and is a classical feature of chorea acanthocytosis. It is an autosomal recessive disorder caused by mutation in the VPS13A on chromosome 9q21.
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