Neuroacanthocytosis Treatment & Management

Updated: Oct 16, 2018
  • Author: Stephen A Berman, MD, PhD, MBA; Chief Editor: Selim R Benbadis, MD  more...
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Treatment

Medical Care

The betalipoprotein disorders of abetalipoproteinemia and the hypobetalipoproteinemias cause a malabsorption of vitamins, especially vitamin E and also vitamins A and K. Treating the patient with high doses of these vitamins, especially vitamin E, ameliorates, but does not completely cure, these diseases.

For the choreiform/parkinsonian group, no specific treatment exists for the primary diseases. No attempts have yet been made to systematically collect observations regarding response to drugs. For choreiform and choreoathetoid movements (hyperkinesias), antipsychotics, such as haloperidol (Haldol), are still helpful. Second-generation antipsychotics may also be used as well as other medications such as tetrabenazine and tiapride.

Parkinsonian symptoms may respond to dopaminergic agents such as carbidopa-levodopa, ropinirole, and pramipexole. However, such agents tend to worsen chorea and could not be used unless a given patient had predominantly parkinsonian features (such as may occur in PKAN). Tremor may respond nonspecifically to either cholinergic agents such as benztropine (Cogentin) or trihexyphenidyl (Artane) or to medications used for essential tremor such as beta-blockers or primidone. One can consider botulinum toxin injection in treating both dystonias, choreoathetoid movements, and tremor. Some dyskinesias may respond to carbamazepine. [43]

For possible epileptic seizures, carbamazepine, oxcarbamazepine, and gabapentin are reasonable options.

The treatment is not based on a fundamental understanding of the diseases, but treatment that may work to suppress the symptoms without undue side effects is tried.

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Surgical Care

Deep brain stimulation was used to help two French patients with neuroacanthocytosis. One of them had a specific diagnosis of choreoacanthocytosis with an intronic mutation in the CHaC gene. The other had a diagnosis of McLeod syndrome (MLS) with weak Kell antigen expression and a mutation in the KX gene. Both had an extremely severe movement disorder with a combination of chorea and dystonia. One patient also had severe dysarthria, involuntary belching, and involuntary tongue biting. The other had hypotonia, postural instability, and cognitive deterioration. Both patients received bilateral globus pallidus stimulators. After extensive adjustment, blinded evaluation of "before" and "after" video by two independent movement disorder specialists showed significant improvement in each patient's chorea. The first patient also had an improvement in belching. However, the other aspects of their problems were not significantly improved. [44]

An earlier study of a single patient by a different group failed to show improvement in a patient with choreoacanthocytosis. [45] However, this was completed 6 years previously and technical knowledge of the details of positioning and regulating the stimulators has improved. The adjustments made in the two partially successful cases were very delicate, and small changes in stimulation parameters made major differences. Although these results are preliminary, they should be regarded as promising for future developments.

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Consultations

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  • Psychiatrist: Psychiatric evaluation is indicated to diagnose and treat depression and/or other psychiatric disorders.

  • Consultations with rehabilitation specialists such as physiatrists, physical therapists, speech therapists, and occupational therapists are usually valuable. [46]

  • Nutritionist

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Diet

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  • Maintain a balanced diet.

  • Consultation with a nutritionist may be appropriate.

  • In advanced cases, a soft diet and/or a GI feeding tube may become necessary.

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Activity

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  • Typically, no restriction in activity is required until more advanced stages of the disease.

  • Fall and balance precautions should be observed.

  • In patients with advanced disease, walkers and/or wheelchairs may be appropriate.

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