eMedicine Specialties > Neurology > Movement and Neurodegenerative Diseases

Neuroacanthocytosis Syndromes: Treatment & Medication

Author: Kenneth B Gross, MD, Founder, Owner, Fusion Clinical Multimedia, Inc, Division of Neurology, Fusion Clinical Multimedia Educational Center
Coauthor(s): Nicholas Y Lorenzo, MD, Chief Editor, eMedicine Neurology; Consulting Staff, Neurology Specialists and Consultants
Contributor Information and Disclosures

Updated: Dec 17, 2008

Treatment

Medical Care

  • Medical care for neuroacanthocytosis (NA) syndromes is symptomatic and supportive. No treatment is available for genetic defects per se.
  • In unusual patients with substantial cardiomyopathy, congestive heart failure must be treated by the appropriate specialist. Sudden death due to ventricular arrhythmia is possible and if it occurs also must be treated by the appropriate specialist.
  • Traditional drugs provide temporary relief of chorea and dyskinesia in some patients.
  • Judicious use of antidepressants and/or sedatives may be beneficial in some patients.
  • Splinting and botulinum toxin may be needed to help dystonia.
  • Mechanical protective devices may be needed for those with repeated falls or self-injurious behavior.

Surgical Care

Results for deep brain stimulation (DBS) have been mixed. In one study by Volkmann, bilateral high-frequency stimulation of the globus pallidus (GPi) was not successful.11 Burbaud has tried GPi stimulation on one patient with the recessive form of NA and another with McLeod syndrome.12 In the first case, a marked decrease of belching, dyskinetic breathing, and tongue biting occurred. In both cases, a frequency-dependent response was noted with high-frequency stimulation (130 Hz), which worsened speech and distal chorea, but improved contralateral dystonia. Low-frequency stimulation (40 Hz) improved chorea but not dystonia. Burbaud also reported improvement in severe trunk spasms in a patient who received bilateral high-frequency stimulation of the motor thalamus.

Intrastriatal transplantation of fetal striatal neuroblasts has been reported to improve some motor and cognitive functions in patients with Huntington disease according to Beal.13 Despite obvious disease parallels, whether such an approach for patients with NA is valuable is totally speculative at this time.

  • In later stages of the disease when dysphagia progresses, a feeding gastrostomy may be required for nutritionally compromised patients.
  • Tracheostomy may be needed in this same group of patients to decrease the risk of aspiration.

Consultations

  • A neurologist should lead the management team.
  • A cardiologist should evaluate for the presence of a cardiomyopathy, particularly when dyspnea and/or ECG abnormalities are noted.
  • A psychiatrist should be consulted when depression and/or behavioral disturbances are significant.
  • A hematologist should be consulted for RBC morphology analysis and evaluation of a possible hemolytic anemia.
  • A gastroenterologist should be consulted for the possible lipid abnormality or when nutritional disorders such as vitamin deficiency are noted. Malabsorption syndrome, particularly in young patients with hypobetalipoproteinemic NA, will need to be ruled out.
  • A physiatrist should coordinate the team working on gait improvement, speech therapy, and physical therapy. Patients with NA may benefit from orthotic devices for foot deformities, walking aids for advancing motor deficits, and alternate communication modalities for severe dysarthria.

Diet

  • As noted, nutritional support is an important issue, particularly later in the course of the disease.
  • Even in patients with only mild swallowing difficulties or in patients with mild lipid disorders, a multivitamin and supplementary vitamin E may be required.
  • Late in NA and its variant syndromes, the patient may be able to tolerate only a blended diet.
  • Solid foods can result in aspiration in patients in whom orofacial dyskinesia is prominent.

Activity

  • Truncal chorea impairs gait stability in many patients with NA. Gait activity should be limited and monitored in patients with severe truncal chorea, particularly those prone to the characteristic NA cataplexy such as leg buckling attacks.
  • Advancing amyotrophy also limits gait in some patients, although the myopathy usually does not cause ambulation failure.
  • In patients with severe chorea and/or amyotrophy, a wheelchair may be required.

Medication

  • Medication for chorea and dyskinesia is usually inadequate but is worth trying.
  • Haloperidol, tetrabenazine, and diazepam have been used in high doses in selected patients with NA. Only modest temporary benefit can be expected. Levetiracetam and topiramate have shown some benefit in secondary choreas and may be considered in treating NA. Levetiracetam has also been shown to help a patient with truncal tic.
  • Rhabdomyolysis and the neuroleptic malignant syndrome are always concerns in patients with NA, particularly because compliance and swallowing problems may lead to undesired daily variations the dopamine blocking agent blood levels.
  • Even when no dramatic haloperidol dosing changes could be documented, Robinson noted rhabdomyolysis in a patient with NA.14 After treatment for the life-threatening condition, the patient was switched from haloperidol to a combination of molindone and divalproex to effectively reduce involuntary movements.
  • Epilepsy management is very individualized. Phenytoin has been used successfully. Carbamazepine and lamotrigine have been reported to worsen the involuntary movements.
  • Digitalis and diuretics have been used successfully for congestive heart failure in patients with NA and cardiomyopathy.
  • Anticonvulsant therapy with phenytoin has been successful in patients with generalized tonic-clonic seizures.
  • In view of potential anticholinergic problems in patients with cardiomyopathy, selective serotonin reuptake inhibitors (SSRIs) are probably a better choice than tricyclic antidepressants.
  • Citalopram was found to help a patient with NA and obsessive-compulsive disorder.15
  • Generally, if hemolytic anemia is noted owing to acanthocyte accumulation/degradation, it is mild and does not require treatment.
  • In a case report, electroconvulsive therapy helped only speech but not chorea and other progressive neurologic problems.16

New protocols similar to those for Huntington disease are worth discussing with the medical treatment team. Agents such as the atypical antipsychotics for chorea and anti-Parkinson disease drugs for patients with NA and Parkinson disease features may be of value. Newer antidepressant drugs may also have a role, particularly SSRIs.

Neuroprotective agents and gene therapy may also have key future roles.

Antipsychotic agents

Chorea, tics, and other adventitious movements such as oral dyskinesia may respond to drugs that block dopamine receptors and facilitate GABA transmission.


Haloperidol (Haldol)

In general, can decrease chorea, tics, and dyskinesia through blockade of dopamine receptors of CNS.

Adult

0.5-5 mg PO bid/tid (up to 30 mg/d); some patients require up to 100 mg/d
2-5 mg IM q4-8h prn

Pediatric

Not established

May increase serum concentrations of TCAs and hypotensive action of antihypertensive agents; phenobarbital or carbamazepine may decrease effects; anticholinergics may increase intraocular pressure; lithium may cause encephalopathy-like syndrome

Documented hypersensitivity; narrow-angle glaucoma; bone marrow suppression; severe cardiac or liver disease; severe hypotension; Parkinson disease; subcortical brain damage

Pregnancy

C - Fetal risk revealed in studies in animals but not established or not studied in humans; may use if benefits outweigh risk to fetus

Precautions

Severe neurotoxicity manifesting as rigidity, or inability to walk or talk, may occur in patients with thyrotoxicosis; if IV/IM, watch for hypotension; caution in patients with CNS depression or cardiac disease; if history of seizures, benefits must outweigh risks; significant increase in body temperature may indicate intolerance (discontinue it occurs)

Anxiolytic

An agent that can decrease anxiety, such as a benzodiazepine, can also decrease movement disorders often made worse by associated stress.


Diazepam (Valium)

Long-acting benzodiazepine that can decrease anxiety in patients with NA throughout the day.

Adult

5 mg PO tid prn

Pediatric

Not established

Phenothiazines, barbiturates, alcohols, MAOIs, and cisapride can increase toxicity significantly

Documented hypersensitivity; narrow-angle glaucoma

Pregnancy

D - Fetal risk shown in humans; use only if benefits outweigh risk to fetus

Precautions

Caution with other CNS depressants, low albumin levels, or hepatic disease (may increase toxicity)

More on Neuroacanthocytosis Syndromes

Overview: Neuroacanthocytosis Syndromes
Differential Diagnoses & Workup: Neuroacanthocytosis Syndromes
Treatment & Medication: Neuroacanthocytosis Syndromes
Follow-up: Neuroacanthocytosis Syndromes
References
[ CLOSE WINDOW ]

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  96. Zyskowski LP, Bunch TW, Hoagland HC, et al. Mcleod syndrome (hemolysis, acanthocytosis, and increased serum creatine kinase): potential confusion with polymyositis. Arthritis Rheum. Jun 1983;26(6):806-8. [Medline].

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Further Reading

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Keywords

acanthocytosis, spiked red blood cells, chorea, orofacial tics, amyotrophy, hyper-CKemia, normobetalipoproteinemia, chorea-acanthocytosis, degeneration of the basal ganglia, classic adult neuroacanthocytosis disorder, neuroacanthocytosis variant, NA, Bassen-Kornzweig syndrome, neuroacanthocytosis syndromes

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Contributor Information and Disclosures

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Kenneth B Gross, MD, Founder, Owner, Fusion Clinical Multimedia, Inc, Division of Neurology, Fusion Clinical Multimedia Educational Center
Kenneth B Gross, MD is a member of the following medical societies: American Academy of Neurology
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Nicholas Y Lorenzo, MD, Chief Editor, eMedicine Neurology; Consulting Staff, Neurology Specialists and Consultants
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Roberta J Seidman, MD, Director of Neuropathology, Clinical Associate Professor, Department of Pathology, Stony Brook University Medical Center
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