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- W3187741386 abstract "A 38-year-old Pakistani patient presented with a 3-year history of facial grimacing, dysphagia, dysarthria, and stutter. More recently she had developed mild chorea. On examination, she had facial tics, eye twitching, excessive blinking, tongue protrusions, dystonic opening of the mouth and choreiform movement of the limbs, particularly on the right side 1. There was no family history of neurological disease but her parents were first cousins. Her full blood count was normal but a blood film showed acanthocytosis (image). A diagnosis of choreo-acanthocytosis was confirmed by demonstration of reduced chorein expression in red cell membranes. Choreo-acanthocytosis is one of four rare neurological syndromes with movement disorders linked to atrophy of the basal ganglia, acanthocytosis and normal beta lipoproteins, designated collectively neuroacanthocytosis (Table 1). The common link between the neurological and erythroid abnormality is an abnormality of cell membranes. Detection of acanthocytes in a blood film is diagnostically useful." @default.
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- W3187741386 date "2013-06-20" @default.
- W3187741386 modified "2023-10-05" @default.
- W3187741386 title "Choreo-acanthocytosis" @default.
- W3187741386 cites W4245208871 @default.
- W3187741386 doi "https://doi.org/10.1002/ajh.23481" @default.
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