Neuroacanthocytosis Medication

  • Author: Paula K Rauschkolb, DO; Chief Editor: Selim R Benbadis, MD   more...
 
Updated: Jan 20, 2010
 

Medication Summary

No effective treatment exists. However, symptomatic treatment can be attempted.

In one case describing a 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.[44]

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Antipsychotic agents

Class Summary

These agents improve psychiatric symptoms and may improve chorea.

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Haloperidol (Haldol)

 

Useful in treatment of irregular spasmodic movements of limbs or facial muscles.

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Acetylcholine (ACh) release inhibitor

Class Summary

This agent is effective in mandibular dystonia, thereby improving eating.

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OnabotulinumtoxinA (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.

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Contributor Information and Disclosures
Author

Paula K Rauschkolb, DO  Staff Physician, Department of Neurology, Dartmouth-Hitchcock Medical Center

Paula K Rauschkolb, DO is a member of the following medical societies: American Academy of Neurology and American Medical Association

Disclosure: Nothing to disclose.

Coauthor(s)

Stephen A Berman, MD, PhD, MBA  Professor of Neurology, University of Central Florida College of Medicine

Stephen A Berman, MD, PhD, MBA is a member of the following medical societies: Alpha Omega Alpha, American Academy of Neurology, and Phi Beta Kappa

Disclosure: Nothing to disclose.

Specialty Editor Board

Roberta J Seidman, MD  Associate Professor of Clinical Pathology, Stony Brook University; Director of Neuropathology, Department of Pathology, Stony Brook University Medical Center

Roberta J Seidman, MD is a member of the following medical societies: American Academy of Neurology, American Association of Neuropathologists, New York Association of Neuropathologists (The Neuroplex), and Suffolk County Society of Pathologists

Disclosure: Nothing to disclose.

Francisco Talavera, PharmD, PhD  Senior Pharmacy Editor, eMedicine

Disclosure: eMedicine Salary Employment

Nestor Galvez-Jimenez, MD, MSc, MHA  Chairman, Department of Neurology, Program Director, Movement Disorders, Department of Neurology, Division of Medicine, Cleveland Clinic Florida

Nestor Galvez-Jimenez, MD, MSc, MHA is a member of the following medical societies: American Academy of Neurology, American College of Physicians, and Movement Disorders Society

Disclosure: Nothing to disclose.

Chief Editor

Selim R Benbadis, MD  Professor, Director of Comprehensive Epilepsy Program, Departments of Neurology and Neurosurgery, University of South Florida School of Medicine, Tampa General Hospital

Selim R Benbadis, MD is a member of the following medical societies: American Academy of Neurology, American Academy of Sleep Medicine, American Clinical Neurophysiology Society, American Epilepsy Society, and American Medical Association

Disclosure: UCB Pharma Honoraria Speaking, consulting; Lundbeck Honoraria Speaking, consulting; Cyberonics Honoraria Speaking, consulting; Glaxo Smith Kline Honoraria Speaking, consulting; Ortho McNeil Honoraria Speaking, consulting; Pfizer Honoraria Speaking, consulting; Sleepmed/DigiTrace Speaking, consulting

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Table 1. Most Common Neuroacanthocytosis Syndromes
OMIM#NameModeLocusOnset ageDescriptionPathology
#200150ChAc or Levine-Critchley syndrome[6, 7, 8, 13] Autosomal recessiveVPS13A (chorein); 9q21[13] Adult onset; early to middle age (20-50 y)Features include choreoathetosis, dystonia, parkinsonism, orofacial dyskinesias, seizures, and neuropathy. Whether the original index cases (ie, Levine, 1960 and 1968; Critchley, 1967 and 1970) were part of the Levine-Critchley syndrome as understood genetically today remain unknown.[6, 7, 8] Atrophy of the caudate, putamen, globus pallidus, and substantia nigra
+314850MLS[14] X-linkedKell blood group protein; Xp21Adult onset middle to late age (40-70 y)Features include choreoathetosis, dystonia, parkinsonism, seizures, neuropathy, myopathy, and cardiomyopathy.Atrophy of the caudate, putamen, and globus pallidus; substantia nigra not involved
#606438HDL2[15, 16] Autosomal dominantJPH3; 16q24.3Onset earlier as repeat size increases (usually 30-40 y)Features include choreoathetosis, dystonia, parkinsonism, hyperreflexia, dementia, and weight loss.Atrophy of the caudate and putamen
#234200PKAN or PANK2 deficiency (previously termed Hallervorden-Spatz disease)[17] Autosomal recessivePANK2; 20p13Childhood onset (by 4-6 y); adult onset subtypes existFeatures include choreoathetosis, dystonia, dysarthria, rigidity, spasticity, and dementia. PKAN also includes the HARP (hypoprebeta-lipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration) subtype. Iron deposition in the globus pallidus (causes "eye-of-the-tiger" sign on MRIs
#200100Abeta-lipoprotein-emia[9, 10, 11, 12] Autosomal recessiveMTP; 4q22- q24Infancy / childhoodFeatures include ataxia (sensory ataxia with some cerebellar features), visual loss, mental retardation / dementia, low vitamin E level, high cholesterol level, and abnormal lipoprotein electrophoresis. Dorsal root ganglia, ascending sensory tracts, cuneate and gracile nuclei of cord, spinocere-bellar projections; possibly some direct cerebellar involvement; retinitis pigmentosa
+107730FHBL1[24, 25, 26, 27, 28] Autosomal recessiveAPOB; 2p24Infancy / childhoodFeatures include ataxia (sensory ataxia with some cerebellar features), visual loss, and mental retardation / dementia.Dorsal root ganglia, ascending sensory tracts, cuneate and gracile nuclei of cord, spinocere-bellar projections; possibly some direct cerebellar involvement; retinitis pigmentosa.
%605019FHBL2[29, 30] Possibly autosomal recessive3p22-p21.2 for some, for others linkage not knownInfancy / childhoodFeatures are same as for FHBL1.Same as FHBL1
Table 2. Extremely Rare or Uncertain Causes of Neuroacanthocytosis
OMIMNameModeLocusDescription
#540000Mitochondrial encephalopathy, lactic acidosis, and stroke (MELAS) with acanthocytosis[31] Mitochondrial for MELAS but this case is not provenMitochondrial genome for MELAS but this case is not provenThis is a single case. Typically, MELAS is an A3243G mutation. (Adenine is replaced by guanosine at position 3243 in the mitochondrial genome.) This single case report did not have mitochondrial genomic sequencing. Pathology reports showed abnormalities in Betz cells, brainstem neurons, and anterior horn cells. Muscle pathology results are compatible with MELAS.
N/AFamilial acanthocytosis with paroxysmal exertion-induced dyskinesias and epilepsy (FAPED)[32] Autosomal dominant (not certain; only one family)This is characterized by intermittent attacks of cramps and involuntary movements; attacks are myoclonic and atonic epilepsy. It has been described in one family. MRI showed mild basal ganglia degeneration. Positron emission tomography scanning showed decreased glucose metabolism in the thalamus.
#246700Anderson disease, now part of chylomicron retention disease (CMRD)Autosomal recessiveSar1B gene, 5q31.1[33] Severe intestinal fat malabsorption with diarrhea, steatorrhea, hypobetalipoproteinemia, low cholesterol, triglyceride and phospholipid levels, and failure to secrete chylomicrons after a fatty meal. Typically lacks acanthocytes, retinitis pigmentosa, and ataxia. Rare cases may be associated with acanthocytes and some neurologic problems and so may be considered neuroacanthocytosis. A single mention of features of neuroacanthocytosis is found in book chapter[34] and reference to same chapter[35] .
+278000 or 278100Atypical Wolman disease[36] Unknown (single case)Unknown (single case)In 1970, Eto and Kitagawa described a patient with lipid malabsorption, vomiting, growth failure, adrenal calcification, hypolipoproteinemia, and acanthocytosis and termed it Wolman disease (OMIM #278000)[36] . The patient had hepatosplenomegaly, steatorrhea, abdominal distention, and adrenal calcification that appeared in the first weeks of life, as well as widespread accumulation of cholesterol esters and triglycerides in the internal organs. Typically, Wolman disease is not associated with acanthocytes or neurologic problems. This single case has now been given its own number (OMIM #278100). Whether this case is truly Wolman disease is uncertain.
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