The'core'neuroacanthocytosis syndromes are chorea acanthocytosis and McLeod syndrome.
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Mutations in this gene cause the autosomal recessive disorder, chorea acanthocytosis.
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Chorea acanthocytosis is characterised by dystonia, chorea and progressive cognitive, behavioural changes and seizures.
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Strikingly, many people with chorea acanthocytosis uncontrollably bite their tongue, lips, and the inside of the mouth.
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Chorea-acanthocytosis is considered an autosomal recessive disorder, although a few cases with autosomal dominant inheritance have been noted.
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The'core'neuroacanthocytosis syndromes, in which acanthocytes are a typical feature, are chorea acanthocytosis and McLeod syndrome.
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Mutation of XK protein may lead to McLeod syndrome, a multi-system disorder characterized by hemolytic anemia, myopathy, acanthocytosis, and chorea.
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Mouthguards and other physical protective devices may be useful in preventing damage to the lips and tongue due to the orofacial chorea and dystonia typical of chorea acanthocytosis.
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The hallmark of the neuroacanthocytosis syndromes is the presence of acanthocytes in peripheral blood . " Acanthocytosis " originated from the Greek word " acantha ", meaning thorn.
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Acanthocyte in chorea-acanthocytosis : fewer irregularly distributed spiculae, in living specimen ( DIC 945 x ) ( a ), standard staining ( BF 1000 x oil ) ( b ), and Scanning Electron Microscope ( c ).
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