eMedicine Specialties > Neurology > Movement and Neurodegenerative Diseases
Neuroacanthocytosis: Treatment & Medication
Updated: Sep 14, 2006
- Overview
- Differential Diagnoses & Workup
- Treatment & Medication
- Follow-up
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.
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.
Consultations
- Psychiatrist: Psychiatric evaluation is indicated to diagnose and treat depression and/or other psychiatric disorders.
- Nutritionist
Diet
- 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.
Activity
- 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.
Medication
No effective treatment exists. However, symptomatic treatment can be attempted.
In a recently described patient who presented with truncal tic as part of the symptoms of neuroacanthocytosis, the newly approved anticonvulsant, levetiracetam, was very helpful in controlling the tic. However, further studies are warranted to ensure that it is effective.
Antipsychotic agents
These agents improve psychiatric symptoms and may improve chorea.
Haloperidol (Haldol)
Useful in treatment of irregular spasmodic movements of limbs or facial muscles.
Adult
1-5 mg PO bid/tid; increase slowly to response; not to exceed 30 mg/d
2-5 mg IM q4-8h prn
Pediatric
Not established
May increase serum concentrations of TCAs; may increase hypotensive action of antihypertensive agents; phenobarbital or carbamazepine may decrease effects; concomitant anticholinergics may increase intraocular pressure; concurrent lithium associated with encephalopathylike syndrome
Documented hypersensitivity; narrow-angle glaucoma; bone marrow suppression; severe cardiac or liver disease; severe hypotension; subcortical brain damage; toxic CNS depression or comatose state
Pregnancy
D - Unsafe in pregnancy
Precautions
May cause severe neurotoxicity manifesting as rigidity or inability to walk or talk in patients with thyrotoxicosis; if IV/IM, watch for hypotension; caution in CNS depression or cardiac disease; if history of seizures, benefits must outweigh risks; significant increase in body temperature may indicate intolerance (discontinue if it occurs); may produce neuroleptic malignant syndrome or severe cardiovascular disorders (due to hypotension or precipitation of angina pectoris); if patient has seizures, decrease threshold; may produce or worsen parkinsonian symptoms
Acetylcholine (ACh) release inhibitor
This agent is effective in mandibular dystonia, thereby improving eating.
Botulinum toxin type A (BOTOX®)
Inject into mandibular muscles that are associated with dystonic movements. Treats excessive, abnormal contractions associated with blepharospasm. Binds to receptor sites on motor nerve terminals and inhibits release of ACh, which in turn inhibits transmission of impulses in neuromuscular tissue.
Reexamine patients 7-14 d after initial dose to assess response. Increase doses 2-fold over previous dose for patients experiencing incomplete paralysis of target muscle, but do not repeat injection for at least 1 mo.
Adult
20-60 U IM
Pediatric
Not established
Aminoglycosides or drugs that interfere with neuromuscular transmission may potentiate effects
Documented hypersensitivity
Pregnancy
C - Safety for use during pregnancy has not been established.
Precautions
Understand anatomy of area to be injected; do not exceed recommended dosages and frequencies of administration; presence of antibodies to botulinum toxin type A may reduce effects of therapy
More on Neuroacanthocytosis |
| Overview: Neuroacanthocytosis |
| Differential Diagnoses & Workup: Neuroacanthocytosis |
 Treatment & Medication: Neuroacanthocytosis |
| Follow-up: Neuroacanthocytosis |
| References |
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References
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Further Reading
Keywords
chorea-acanthocytosis, Levine-Critchley syndrome, acanthocytosis, Bassen-Kornsweig disease, abetalipoproteinemia, familial hypobetalipoproteinemia, lipoprotein disorders, chorea-acanthocytosis McLeod syndrome, MLS, ChAc, McLeod syndrome, Huntington disease–like2, HDL2, pantothenate kinase–associated neurodegeneration, PKAN
