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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).

Table 1. Characteristics of Conditions Categorised as Neuroacanthocytosis
SyndromeMutated gene and inheritanceClinicopathological features
  1. a

    Some cases have acanthocytes

Choreo-acanthocytosisVPS13A, autosomal recessiveAdult onset progressive neurodegeneration, myopathy, often epilepsy
McLeod phenotypeKX, X-linked recessiveAdult onset progressive neurodegeneration, myopathy, cardiomyopathy, weak or absent expression of Kell antigens
Huntingdon-like disease 2aJPH3, autosomal dominantAdult onset progressive neurodegeneration
Pantothenate-kinase associated neurodegenerationaPANK2, autosomal recessiveChildhood onset progressive neurodegeneration, pallidal degeneration, sometimes retinitis pigmentosa

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.

Reference

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  • 1
    Sokolov E, Schneider SA, Bain PG. Chorea-acanthocytosis, Practical Neurology 2012; 12: 4043.