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Neuroacanthocytosis disorders
Neuroacanthocytosis
*Choreoacanthocytosis : Chorea-acanthocytosis; Levine-Critchley syndrome; ChAc *
In 1967 Critchley et all described a rare inherited condition of neurological abnormalities in an adult and in 1970 Levine et al described a similar condition in a family of nineteen persons over four generations, the majority of whom had Acanthocytosis - the typical abnormal red blood cell with spur like projections found in Neuroacanthocytosis. The condition affects both males and females, with a slight predominance in males, and all ethnic backgrounds. Reports of about two hundred to two hundred and fifty individuals have appeared in medical literature.
There is a wide variation in how the disorder affects individuals but the features of Chorea-acanthocytosis can include:
Mutations in the VPS13A gene on chromosome 9q21 are thought to cause Chorea-acanthocytosis.
A diagnosis of Chorea-acanthocytosis can be made when the typical neurological features are seen, especially the movements of the face with lip and tongue biting. If there are other affected siblings this also suggests the diagnosis. Not all persons show the presence of Acanthocytosis. However, the majority of persons with Chorea-acanthocytosis will show an increased presence of muscle creatine phosphokinase. The VPS13A gene is the only gene known to be associated with the condition. As molecular genetic testing for the gene is only available on a research basis, availability of the test needs to be kept under review.
Chorea-acanthocytosis cannot be cured. Treatment is symptomatic for the features affecting the individual, and assessment for the best way of helping people with Chorea-acanthocytosis. This will include speech therapy and mechanical aids such as computer speech assistance and aids to ameliorate the effects of teeth grinding, head banging and constant falls. Seizure control with anti-epileptic drugs, alleviation of depression with antidepressants and drugs to slow cognitive loss such as those used in Alzheimer's disease are all used.
Inheritance patterns
Autosomal recessive. Reports from Japan, where it appears to be somewhat more common, also indicate autosomal dominant inheritance.
Prenatal diagnosis
This may be possible in families already known to be affected.
Background
| Abetalipoproteinemia 
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