eMedicine Specialties > Neurology > Movement and Neurodegenerative Diseases

Neuroacanthocytosis: Differential Diagnoses & Workup

Author: Eric Dinnerstein, MD, Consulting Staff Neurologist, Maine Neurology
Coauthor(s): Stephen A Berman, MD, PhD, Professor, Department of Internal Medicine, Section of Neurology, Dartmouth Medical School; Chief, Neurology Service, White River Junction Veterans Medical Center; Maritza Arroyo-Muñiz, MD, Associate Program Director, Professor of Neurology, Department of Neurology, University of Puerto Rico
Contributor Information and Disclosures

Updated: Sep 14, 2006

Differential Diagnoses

Huntington Disease
Parkinson Disease
Parkinson Disease in Young Adults
Parkinson-Plus Syndromes
Tourette Syndrome and Other Tic Disorders
Wilson Disease

Other Problems to Be Considered

Bassen-Kornzweig disease (ie, abetalipoproteinemia)

Workup

Laboratory Studies

  • Fresh blood smear for acanthocytes: Any level greater than 3% is abnormal; in neuroacanthocytosis, acanthocytes usually measure 10-30%. Liver disease, splenectomy, and hemolytic anemia must be excluded.
  • Elevated creatine kinase
  • Serum lipoproteins: In addition to the abetalipoproteinemia and hypobetalipoproteinemia, a case report of a patient with aprebetalipoproteinemia has also been documented. All the forms probably have not yet been discovered.
  • Elevated liver enzyme levels
  • Specific genetic tests
    • Bassen-Kornsweig disease (abetalipoproteinemia) -MTP gene
    • FHBL1 -APOB gene
    • ChAc - Chorein (VPS13A)
    • MLS - Kell blood group protein (XK)
    • HDL2 -JPH3 gene
    • PKAN -PANK2 gene

Imaging Studies

  • Brain MRI - Caudate atrophy and increased signal in caudate and lentiform nuclei. In PKAN, a pallidal hypointensity with a central area of hyperintensity, named "eye of the tiger" sign, is observed. The hypointensity is due to iron deposition.
  • Brain CT scanning - Caudate atrophy and ventricular dilatation (especially in the frontal horns of the lateral ventricles)
  • Brain positron emission tomography - Hypometabolism in the neostriatum and the frontal cerebral cortical areas
  • Brain single-photon emission computed tomography (SPECT) - Hypoperfusion in the neostriatum and frontal areas

Other Tests

  • Electromyography (EMG) and nerve conduction study (NCS) findings are consistent with chronic denervation and a primarily axonal peripheral neuropathy.

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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  2. Bohlega S, Riley W, Powe J. Neuroacanthocytosis and aprebetalipoproteinemia. Neurology. 1998;50 (6):1912-1914. [Medline].

  3. Brooks DJ, Ibanez V, Playford ED, et al. Presynaptic and postsynaptic striatal dopaminergic function in neuroacanthocytosis: a positron emission tomographic study. Ann Neurol. Aug 1991;30(2):166-71. [Medline].

  4. Critchley EM, Clark DB, Wikler A. Acanthocytosis and neurological disorder without betalipoproteinemia. Arch Neurol. Feb 1968;18(2):134-40. [Medline].

  5. Dubinsky RM, Hallett M, Levey R, Di Chiro G. Regional brain glucose metabolism in neuroacanthocytosis. Neurology. Sep 1989;39(9):1253-5. [Medline].

  6. Estes JW, Morley TJ, Levine IM, Emerson CP. A new hereditary acanthocytosis syndrome. Am J Med. Jun 1967;42(6):868-81. [Medline].

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  8. Hardie RJ, Pullon HW, Harding AE, et al. Neuroacanthocytosis. A clinical, haematological and pathological study of 19 cases. Brain. Feb 1991;114 ( Pt 1A):13-49. [Medline].

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Further Reading

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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

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Contributor Information and Disclosures

Author

Eric Dinnerstein, MD, Consulting Staff Neurologist, Maine Neurology
Eric Dinnerstein, MD 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, Professor, Department of Internal Medicine, Section of Neurology, Dartmouth Medical School; Chief, Neurology Service, White River Junction Veterans Medical Center
Stephen A Berman, MD, PhD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Neurology, and Phi Beta Kappa
Disclosure: Nothing to disclose.

Maritza Arroyo-Muñiz, MD, Associate Program Director, Professor of Neurology, Department of Neurology, University of Puerto Rico
Maritza Arroyo-Muñiz, MD is a member of the following medical societies: American Academy of Neurology and National Stroke Association
Disclosure: Nothing to disclose.

Medical Editor

Roberta J Seidman, MD, Director of Neuropathology, Clinical Associate Professor, 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 for the Advancement of Science, and American Association of Neuropathologists
Disclosure: Nothing to disclose.

Pharmacy Editor

Francisco Talavera, PharmD, PhD, Senior Pharmacy Editor, eMedicine
Disclosure: Nothing to disclose.

Managing Editor

Nestor Galvez-Jimenez, MD, Program Director of Movement Disorders, Department of Neurology, Division of Medicine, Director of Neurology Residency Training Program, Cleveland Clinic Florida
Nestor Galvez-Jimenez, MD is a member of the following medical societies: American Academy of Neurology, American College of Physicians, and Movement Disorders Society
Disclosure: Nothing to disclose.

CME Editor

Matthew J Baker, MD, Consulting Staff, Collier Neurologic Specialists, Naples Community Hospital
Matthew J Baker, MD is a member of the following medical societies: American Academy of Neurology
Disclosure: Nothing to disclose.

Chief Editor

Nicholas Y Lorenzo, MD, Chief Editor, eMedicine Neurology; Consulting Staff, Neurology Specialists and Consultants
Nicholas Y Lorenzo, MD is a member of the following medical societies: Alpha Omega Alpha and American Academy of Neurology
Disclosure: Nothing to disclose.

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