Neuroacanthocytosis Syndromes Clinical Presentation

  • Author: Kenneth Van Gross, MD; Chief Editor: Selim R Benbadis, MD   more...
 
Updated: May 15, 2012
 

History

The typical presentation of neuroacanthocytosis syndromes involves tic-like orofacial movements and gait instability beginning in young adulthood. In its classic form, NA is associated with orofacial tics, lingual dyskinesias, chorea, and leg buckling with ambulation. Dystonia, self-mutilating lip and tongue biting, and difficulty swallowing are also commonly seen. Occasionally, Parkinsonian features, belching, and violent truncal spasms associated with head banging can be noted.

As the disease progresses, increasing weakness and muscle wasting are often noted.

In some patients with NA, personality changes, particularly depression, appear early in the course of the disease.

Generalized tonic-clonic seizures and complex partial seizures have been reported.[15] The latter seizure type has featured déjà vu phenomena.

In the variant syndromes, the patient may present with gait imbalance as a prominent neurological symptom due to involvement of spinocerebellar pathways.

Some patients with variant syndromes may present with progressive dyspnea due to cardiomyopathy.

Some patients exhibit Tourettelike tics, which are thought to be due to hypersensitivity of dopamine receptors. As the disease progresses, the dopamine receptors may become hyporesponsive or decrease in number sufficiently to result in a parkinsonian syndrome.

Progressive cognitive disturbance is often a part of the symptomatic decline in NA syndromes.

Next

Diagnostic Considerations

Although chorea, reduced/absent reflexes, and acanthocytosis are extremely common in NA syndromes, all 3 of these signs may not be present in every patient with NA.

Features including orofacial tics, seizures, neuropsychiatric abnormalities, dysphagia, dysarthria, elevated CPK levels, and proximal muscle weakness and wasting are noted in varying combinations in a majority of the patients.

Occasional patients simply have acanthocytosis combined with one or more of the following:

  • Chorea/dyskinesia
  • Amyotrophy
  • CPK elevation
  • Parkinsonism or ataxia (rare)

Gilles de la Tourette syndrome

Orofacial tics are noted in both disorders, but acanthocytosis, high CPK level, and amyotrophy are not present in Tourette syndrome.

Huntington disease (HD)

In HD, limb chorea is more prominent and tics usually are not present. Early dementia commonly is associated with HD and not NA. No acanthocytosis or amyotrophy is noted in HD. The autosomal dominant pattern of inheritance in HD is helpful in making this diagnosis. Currently, definitive genetic testing for HD is available.

Hallervorden-Spatz disease (HS)

The classic basal ganglia iron distribution in the globus pallidus seen in HS usually is not seen in NA syndromes. In a young patient with HS, a syndrome of acanthocytosis, retinitis pigmentosa, low betalipoproteins, and a movement disorder that is consistent with NA has been described.

Wilson disease (WD)

Copper abnormalities or Kayser-Fleisher rings noted in WD do not occur in NA. The movement disorder in WD usually presents at a younger age (children or adolescents).

Polymyositis (PM)

Although patients with PM can show a high CPK level, an extrapyramidal system movement disorder is not part of the spectrum of PM. Both PM and NA can have a hemolytic anemia, the latter due to acanthocytosis. Acanthocytosis is not present in PM.

Bassen-Kornzweig syndrome (BK)

Abetalipoproteinemia, ataxia, and retinitis pigmentosa typically are seen in a child with acanthocytosis. Occasional NA syndromes have been reported in children, although these do not have all the BK features other than the acanthocytosis and decreased betalipoproteins.

McLeod syndrome

Acanthocytosis and high CPK level due to a benign skeletal myopathy can at times be complicated by a cardiomyopathy, involuntary movements, and/or dementia. This syndrome, found in children and adults with the Kell-null phenotype, is actually part of the NA variant syndrome family. Psychosis has also been described as a presenting feature.

Chorea-amyotrophy with chronic hemolytic anemia

This syndrome also has been described to include NA type dyskinesia. Lack of acanthocytosis and nonpallidal basal ganglia iron deposition distinguishes chorea-amyotrophy with chronic hemolytic anemia from HS.

Chorea-acanthocytosis presenting as motor neuron disease

As suggested by several researchers, including separate investigations by Bird and Gross, the amyotrophy of NA implicates features of motor neuron disease.[16, 17]

A recent report[18] cited a patient with a gait disturbance and dysarthria, with clinical and neurophysiological assessment disclosing upper and lower motor neuron signs suggestive of motor neuron disease. Involuntary movements were not present initially but later were observed. A novel mutation of chorein and acanthocytes were identified.

This is also extremely interesting in view of the identification of motor neuron disease, ie, amyotrophic lateral sclerosis plus frontotemporal dementia in the same patients[19] and related to a gene defect on chromosome 9, not far removed from the gene abnormality in NA. It would be worthwhile to check for morphologic red blood cell disorders in these patients in this regard and in view of the various links to red blood cell abnormalities in patients with degenerative disease of the nervous system.

MELAS syndrome

Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes in children (MELAS) have been reported with acanthocytosis.

Previous
Next

Physical

In patients with classic NA, multiple physical findings are observed.

Ticlike facial movements are noted in the context of tongue mutilation and dysarthric speech. Carbamazepine-sensitive paroxysmal kinesigenic dyskinesia and tongue protrusion dystonia have also been reported.

Truncal chorea can explain gait imbalance. However, gait ataxia can be explained on a cerebellar or spinocerebellar basis.

Classically, distal muscle wasting often is noted in the context of hand atrophy and a pes cavus deformity.

In variant syndromes, these features need not be present. In some variant cases, the patient eventually will be wheelchair bound because of both the chorea and the muscle wasting.

Cogwheel rigidity, resting tremor, and bradykinesia are late physical findings in patients with NA who have a parkinsonian syndrome.

Organic mental syndromes are common, including anxiety, depression, psychomotor agitation, obsessive-compulsive thinking, psychosis, paranoia, schizophrenialike features[20, 21] , cognitive dysfunction, and hallucinations.

Retinitis pigmentosa has been described in the HS variant of NA.

Generally, the acanthocytosis does not produce clinical symptoms or physical findings. In one NA variant syndrome, however, a child presented with acanthocytosis-related hemolytic anemia that included malaise and splenomegaly. Another variant case included attacks of jaundice that may have been related to the hemolysis.

Acanthocytosis (though not necessarily that related to NA) may be a predisposing factor for nonketotic hyperglycemia-induced chorea-ballism.

Previous
Next

Causes

NA syndromes can be related to, if not caused by, specific gene defects.

The gene defects may induce hypobetalipoproteinemia.

Since most patients with NA do not have abnormalities in betalipoproteins, the role of hypobetalipoproteinemia in the pathophysiology of NA syndromes is still in question.

Similarly, although membrane protein and ganglioside abnormalities have been noted in some patients with an NA syndrome, and others have serum antibodies against cell membrane components and evidence of sialic acid residues usually noted in active inflammation, none of these findings are known to be clearly causative of the disease in NA syndrome.

NA has been associated with a defect of the 4.1R membrane protein in erythrocytes. This might reflect the expression pattern in the central nervous system, especially the basal ganglia and might lead to dysfunction of AMPA-mediated glutamate transmission.

Previous
Proceed to Differential Diagnoses
 
 
Contributor Information and Disclosures
Author

Kenneth Van Gross, MD  Founder, Owner, Fusion Clinical Multimedia, Inc, Division of Neurology, Fusion Clinical Multimedia Educational Center

Kenneth Van Gross, MD is a member of the following medical societies: American Academy of Neurology

Disclosure: Nothing to disclose.

Coauthor(s)

Nicholas Lorenzo, MD  Consulting Staff, Neurology Specialists and Consultants

Nicholas Lorenzo, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Neurology, and American College of Physician Executives

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  Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Medscape 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, Tampa General Hospital, University of South Florida College of Medicine

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; Pfizer Honoraria Speaking, consulting; Sleepmed/DigiTrace Honoraria Speaking, consulting

References

  1. Levine IM, Estes JW, Looney JM. Hereditary neurological disease with acanthocytosis. A new syndrome. Arch Neurol. Oct 1968;19(4):403-9. [Medline].

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

  3. Walker RH. Autosomal-dominant chorea-acanthocytosis: Report of a family and neuropathology In: Danek A, ed. Neuroacanthocytosis Syndromes. Springer;2005.

  4. Walker RH, Schulz VP, Tikhonova IR, Mahajan MC, Mane S, Arroyo Muniz M. Genetic diagnosis of neuroacanthocytosis disorders using exome sequencing. Mov Disord. Oct 28 2011;[Medline].

  5. Redman CM, Reid ME. The McLeod syndrome: an example of the value of integrating clinical and molecular studies. Transfusion. Mar 2002;42(3):284-6. [Medline].

  6. van den Buuse M, Webber KM. Endothelin and dopamine release. Prog Neurobiol. Mar 2000;60(4):385-405. [Medline].

  7. Bosman GM. Erythrocyte membrane abnormalities in neuroacanthocytosis: Evidence for a neuron-erythrocyte axis?. In: Danek A, ed. Neuroacanthocytosis Syndromes. Springer; 2005.

  8. De Franceschi L, Corrocher R. Erythrocyte membrane anion exchange abnormalities in chorea-acanthocytosis: The band 3 network. In: Danek A, ed. Neuroacanthocytosis Syndromes. Springer:2005.

  9. Dobson-Stone C, Velayos-Baeza A, Filippone LA, et al. Chorein detection for the diagnosis of chorea-acanthocytosis. Ann Neurol. Aug 2004;56(2):299-302. [Medline].

  10. Bayreuther C, Borg M, Ferrero-Vacher C, Chaussenot A, Lebrun C. [Chorea-acanthocytosis without acanthocytes]. Rev Neurol (Paris). Jan 2010;166(1):100-3. [Medline].

  11. Walker RH, Danek A, Uttner I, Offner R, Reid M, Lee S. McLeod phenotype without the McLeod syndrome. Transfusion. Feb 2007;47(2):299-305. [Medline].

  12. De Franceschi L, Tomelleri C, Matte A, Brunati AM, Bovee-Geurts PH, Bertoldi M. Erythrocyte membrane changes of chorea-acanthocytosis are the result of altered Lyn kinase activity. Blood. Nov 17 2011;118(20):5652-63. [Medline].

  13. De Franceschi L, Scardoni G, Tomelleri C, Danek A, Walker RH, Jung HH. Computational identification of phospho-tyrosine sub-networks related to acanthocyte generation in neuroacanthocytosis. PLoS One. 2012;7(2):e31015. [Medline].

  14. Kanjanasut N, Jagota P, Bhidayasiri R. The first case report of neuroacanthocytosis in Thailand: utilization of a peripheral blood smear technique for detecting acanthocytes. Clin Neurol Neurosurg. Jul 2010;112(6):541-3. [Medline].

  15. Troiano AR, Trevisol-Bittencourt PC. [Neuroacanthocytosis. A case report]. Arq Neuropsiquiatr. Jun 1999;57(2B):489-94. [Medline].

  16. Bird TD, Cederbaum S, Valey RW, Stahl WL. Familial degeneration of the basal ganglia with acanthocytosis: a clinical, neuropathological, and neurochemical study. Ann Neurol. Mar 1978;3(3):253-8. [Medline].

  17. Gross KB, Skrivanek JA, Carlson KC, Kaufman DM. Familial amyotrophic chorea with acanthocytosis. New clinical and laboratory investigations. Arch Neurol. Aug 1985;42(8):753-6. [Medline].

  18. Neutel D, Miltenberger-Miltenyi G, Silva I, de Carvalho M. Chorea-acanthocytosis presenting as motor neuron disease. Muscle Nerve. Feb 2012;45(2):293-5. [Medline].

  19. Orr HT. FTD and ALS: genetic ties that bind. Neuron. Oct 20 2011;72(2):189-90. [Medline].

  20. Jung HH, Haker H. Schizophrenia as a manifestation of X-linked Mcleod-Neuroacanthocytosis syndrome. J Clin Psychiatry. May 2004;65(5):722-3. [Medline].

  21. Bruneau MA, Lespérance P, Chouinard S. Schizophrenia-like presentation of neuroacanthocytosis. J Neuropsychiatry Clin Neurosci. 2003;15(3):378-80. [Medline].

  22. Dotti MT, Battisti C, Malandrini A, et al. McLeod syndrome and neuroacanthocytosis with a novel mutation in the XK gene. Mov Disord. Nov 2000;15(6):1282-4. [Medline].

  23. Nicholl DJ, Sutton I, Dotti MT, Supple SG, Danek A, Lawden M. White matter abnormalities on MRI in neuroacanthocytosis. J Neurol Neurosurg Psychiatry. Aug 2004;75(8):1200-1. [Medline].

  24. Gradstein L, Danek A, Grafman J, Fitzgibbon EJ. Eye movements in chorea-acanthocytosis. Invest Ophthalmol Vis Sci. Jun 2005;46(6):1979-87. [Medline].

  25. Volkmann J. Is surgical treatment an option for chorea-acanthocytosis? In: Danek A, ed. Neuroacanthocytosis Syndromes. Springer;2005.

  26. Burbaud P. Deep brain stimulation in neuroacanthocytosis. Mov Disord. 2005;20:1681-1682.

  27. Beal MF, Hantraye P. Novel therapies in the search for a cure for Huntington's disease. Proc Natl Acad Sci U S A. Jan 2 2001;98(1):3-4. [Medline].

  28. Robinson D, Smith M, Reddy R. Neuroacanthocytosis. Am J Psychiatry. Sep 2004;161(9):1716. [Medline].

  29. Habermeyer B, Fuhr P. Obsessive-compulsive disorders due to neuroacanthocytosis treated with citalopram. Pharmacopsychiatry. Mar 2007;40(2):87. [Medline].

  30. Vázquez MJ, Martínez MC. Electroconvulsive Therapy in Neuroacanthocytosis or McLeod Syndrome. J ECT. Nov 7 2008;[Medline].

  31. Akamatsu K, Sakaue H, Tada K, et al. A case report of abetalipoproteinemia (Bassen-Kornzweig syndrome)--the first case in Japan. Jpn J Med. Aug 1983;22(3):231-6. [Medline].

  32. Al-Asmi A, Jansen AC, Badhwar A, Dubeau F, Tampieri D, Shustik C. Familial temporal lobe epilepsy as a presenting feature of choreoacanthocytosis. Epilepsia. Aug 2005;46(8):1256-63. [Medline].

  33. Al-Asmi A, Jansen AC, Badhwar A, et al. Familial temporal lobe epilepsy as a presenting feature of choreoacanthocytosis. Epilepsia. Aug 2005;46(8):1256-63. [Medline].

  34. Alonso ME, Teixeira F, Jimenez G, Escobar A. Chorea-acanthocytosis: report of a family and neuropathological study of two cases. Can J Neurol Sci. Nov 1989;16(4):426-31. [Medline].

  35. Andermann E, Jansen A, Andermann F. French-Canadian chorea-acanthocytosis. Mov Disord. 2005;20:1678.

  36. Arimura H, Kuriyama M, Higuchi I, et al. [Paroxysmal dystonic choreoathetosis with chronic hemolytic anemia and morphologically abnormal erythrocytes]. Rinsho Shinkeigaku. Jan 1995;35(1):29-33. [Medline].

  37. Bansal I, Jeon HR, Hui SR, Calhoun BW, Manning DW, Kelly TJ. Transfusion support for a patient with McLeod phenotype without chronic granulomatous disease and with antibodies to Kx and Km. Vox Sang. Apr 2008;94(3):216-20. [Medline].

  38. Beal MF. In: Danek A, ed. Neuroacanthocytosis Syndromes. Springer; 2005.

  39. Bharucha EP, Bharucha NE. Choreo-acanthocytosis. J Neurol Sci. Feb 1989;89(2-3):135-9. [Medline].

  40. Bostantjopoulou S, Katsarou Z, Kazis A, Vadikolia C. Neuroacanthocytosis presenting as parkinsonism. Mov Disord. Nov 2000;15(6):1271-3. [Medline].

  41. Bramanti P, Ricci RM, Candela L, et al. Sleep spindles in amyotrophic chorea-acanthocytosis disease. Acta Neurol (Napoli). Jun 1987;9(3):191-8. [Medline].

  42. Burbaud P, Rougier A, Ferrer X, et al. Improvement of severe trunk spasms by bilateral high-frequency stimulation of the motor thalamus in a patient with chorea-acanthocytosis. Mov Disord. Jan 2002;17(1):204-7. [Medline].

  43. Burbaud P, Vital A, Rougier A, et al. Minimal tissue damage after stimulation of the motor thalamus in a case of chorea-acanthocytosis. Neurology. Dec 24 2002;59(12):1982-4. [Medline].

  44. Cavalli G, de Gregorio C, Nicosia S, et al. [Cardiac involvement in familial amytrophic chorea with acantocytosis: description of two new clinical cases]. Ann Ital Med Int. Oct-Dec 1995;10(4):249-52. [Medline].

  45. Chorea-acanthocytosis: report of two Brazilian cases.

  46. Clapéron A, Hattab C, Armand V, Trottier S, Bertrand O, Ouimet T. The Kell and XK proteins of the Kell blood group are not co-expressed in the central nervous system. Brain Res. May 25 2007;1147:12-24. [Medline].

  47. Danek A, Dobson-Stone C, Velayos-Baeza A. The phenotype of chorea-acanthocytosis: a review of 106 patients with VPS13A mutations. Mov Disord. 2005;20:1678.

  48. Danek A, Jung HH, Melone MA, et al. Neuroacanthocytosis: new developments in a neglected group of dementing disorders. J Neurol Sci. Mar 15 2005;229-230:171-86. [Medline].

  49. Danek A, Uttner I, Vogl T, et al. Cerebral involvement in McLeod syndrome. Neurology. Jan 1994;44(1):117-20. [Medline].

  50. Dobson-Stone C. The spectrum of mutations and possible function of the CHAC gene In: Danek A, ed. Neuoracanthocytosis Syndromes. Springer;2005.

  51. Faillace RT, Kingston WJ, Nanda NC, Griggs RC. Cardiomyopathy associated with the syndrome of amyotrophic chorea and acanthocytosis. Ann Intern Med. May 1982;96(5):616-7. [Medline].

  52. Ferrer X, Julien J, Vital C, et al. [Choreo-acanthocytosis]. Rev Neurol (Paris). 1990;146(12):739-45. [Medline].

  53. Gil-Nagel A, Morlan L, Balseiro J, et al. [Neuro-acanthocytosis with associated myopathy. A case report]. Neurologia. Apr 1994;9(4):165-8. [Medline].

  54. Gross KB, Skrivanek JA, Emeson EE. Ganglioside abnormality in amyotrophic chorea with acanthocytosis. Lancet. Oct 2 1982;2(8301):772. [Medline].

  55. Halliday W. The nosology of Hallervorden-spatz disease. J Neurol Sci. Dec 1995;134 Suppl:84-91. [Medline].

  56. Hardie RJ. Acanthocytosis and neurological impairment--a review. Q J Med. Apr 1989;71(264):291-306. [Medline].

  57. 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].

  58. Hashimoto T, Nakadai A, Fujimori N, Yanagisawa N. [A case of "chorea with acanthocytosis and neuropathy" (chorea-acanthocytosis) with parkinsonism without areflexia]. Rinsho Shinkeigaku. Jan 1987;27(1):88-93. [Medline].

  59. Hewer E, Danek A, Schoser BG, Miranda M, Reichard R, Castiglioni C. McLeod myopathy revisited: more neurogenic and less benign. Brain. Dec 2007;130(Pt 12):3285-96. [Medline].

  60. Higgins JJ, Patterson MC, Papadopoulos NM, et al. Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration (HARP syndrome). Neurology. Jan 1992;42(1):194-8. [Medline].

  61. Hirayama M, Hamano T, Shiratori M, et al. Chorea-acanthocytosis with polyclonal antibodies to ganglioside GM1. J Neurol Sci. Oct 3 1997;151(1):23-4. [Medline].

  62. Iwata M, Fuse S, Sakuta M, Toyokura Y. Neuropathological study of chorea-acanthocytosis. Jpn J Med. May 1984;23(2):118-22. [Medline].

  63. Jung HH, Hergersberg M, Kneifel S, et al. McLeod syndrome: a novel mutation, predominant psychiatric manifestations, and distinct striatal imaging findings. Ann Neurol. Mar 2001;49(3):384-92. [Medline].

  64. Katsube T, Shimono T, Ashikaga R, Hosono M, Kitagaki H, Murakami T. Demonstration of Cerebellar Atrophy in Neuroacanthocytosis of 2 Siblings. AJNR Am J Neuroradiol. Oct 22 2008;[Medline].

  65. Kohler B. [Hallervorden-Spatz syndrome with acanthocytosis]. Monatsschr Kinderheilkd. Sep 1989;137(9):616-9. [Medline].

  66. Kurano Y, Nakamura M, Ichiba M, Matsuda M, Mizuno E, Kato M. Chorein deficiency leads to upregulation of gephyrin and GABA(A) receptor. Biochem Biophys Res Commun. Dec 15 2006;351(2):438-42. [Medline].

  67. Kuroiwa Y, Ohnishi A, Sato Y, Kanazawa I. Chorea acanthocytosis: clinical pathological and biochemical aspects. Int J Neurol. 1984;18:64-74. [Medline].

  68. Kutcher JS, Kahn MJ, Andersson HC, Foundas AL. Neuroacanthocytosis masquerading as Huntington's disease: CT/MRI findings. J Neuroimaging. Jul 1999;9(3):187-9. [Medline].

  69. Larget-Piet L, Pouplard F. [Ataxia-areflexia-familial steatorrhea without abetalipoproteinemia or acanthocytosis]. J Genet Hum. Sep 1981;29(3):249-51. [Medline].

  70. Limos LC, Ohnishi A, Sakai T, et al. "Myopathic" changes in chorea-acanthocytosis. Clinical and histopathological studies. J Neurol Sci. Jul 1982;55(1):49-58. [Medline].

  71. Lin FC, Wei LJ, Shih PY. Effect of levetiracetam on truncal tic in neuroacanthocytosis. Acta Neurol Taiwan. Mar 2006;15(1):38-42. [Medline].

  72. Luckenbach MW, Green WR, Miller NR, et al. Ocular clinicopathologic correlation of Hallervorden-Spatz syndrome with acanthocytosis and pigmentary retinopathy. Am J Ophthalmol. Mar 1983;95(3):369-82. [Medline].

  73. Lupo I, Aragona F, Fierro B, et al. Choreo-acanthocytosis with myopathy. Report of a case. Acta Neurol (Napoli). Oct-Dec 1987;9(5-6):334-8. [Medline].

  74. Malandrini A, Fabrizi GM, Truschi F, et al. Atypical McLeod syndrome manifested as X-linked chorea-acanthocytosis, neuromyopathy and dilated cardiomyopathy: report of a family. J Neurol Sci. Jun 1994;124(1):89-94. [Medline].

  75. Marson AM, Bucciantini E, Gentile E, Geda C. Neuroacanthocytosis: clinical, radiological, and neurophysiological findings in an Italian family. Neurol Sci. Oct 2003;24(3):188-9. [Medline].

  76. Miranda M, Campero M, Tenhamm E, Villagra R. [Neuroacanthocytosis: report of 3 cases]. Rev Med Chil. Feb 1993;121(2):176-9. [Medline].

  77. Miranda M, Castiglioni C, Frey BM, Hergersberg M, Danek A, Jung HH. Phenotypic variability of a distinct deletion in McLeod syndrome. Mov Disord. Jul 15 2007;22(9):1358-61. [Medline].

  78. Mukoyama M, Kazui H, Sunohara N, et al. Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes with acanthocytosis: a clinicopathological study of a unique case. J Neurol. Aug 1986;233(4):228-32. [Medline].

  79. Müller-Vahl KR, Berding G, Emrich HM, Peschel T. Chorea-acanthocytosis in monozygotic twins: clinical findings and neuropathological changes as detected by diffusion tensor imaging, FDG-PET and (123)I-beta-CIT-SPECT. J Neurol. Aug 2007;254(8):1081-8. [Medline].

  80. Nielsen SM, Temlett JA. Neuro-acanthocytosis--a rare cause of chorea. S Afr Med J. Jul 1997;87(7):897-8. [Medline].

  81. Nihashi H, Yoshida M. [Cognitive function in patients with parkinsonism--in relationship with frontal lobe symptoms]. No To Shinkei. Mar 1988;40(3):261-6. [Medline].

  82. Oechslin E, Kaup D, Jenni R, Jung HH. Cardiac abnormalities in McLeod syndrome. Int J Cardiol. Nov 26 2007;[Medline].

  83. Oechsner M, Buchert R, Beyer W, Danek A. Reduction of striatal glucose metabolism in McLeod choreoacanthocytosis. J Neurol Neurosurg Psychiatry. Apr 2001;70(4):517-20. [Medline]. [Full Text].

  84. Ogawa T, Seki H, Okita N, et al. [A case of chorea-acanthocytosis associated with low glycohemoglobin A1c]. Rinsho Shinkeigaku. Mar 1993;33(3):344-6. [Medline].

  85. Ohnishi A, Sato Y, Nagara H, et al. Neurogenic muscular atrophy and low density of large myelinated fibres of sural nerve in chorea-acanthocytosis. J Neurol Neurosurg Psychiatry. Jul 1981;44(7):645-8. [Medline].

  86. Orlacchio A, Calabresi P, Rum A, Tarzia A, Salvati AM, Kawarai T, et al. Neuroacanthocytosis associated with a defect of the 4.1R membrane protein. BMC Neurol. Feb 13 2007;7:4. [Medline].

  87. Orrell RW, Amrolia PJ, Heald A, et al. Acanthocytosis, retinitis pigmentosa, and pallidal degeneration: a report of three patients, including the second reported case with hypoprebetalipoproteinemia (HARP syndrome). Neurology. Mar 1995;45(3 Pt 1):487-92. [Medline].

  88. Parhofer KG, Richter WO, Stiess W, Schwandt P. [Acanthocytosis, short stature and disordered deep sensation in a 26-year-old patient]. Internist (Berl). Jun 1989;30(6):382-5. [Medline].

  89. Pisani A, Diomedi M, Rum A, Cianciulli P, Floris R, Orlacchio A, et al. Acanthocytosis as a predisposing factor for non-ketotic hyperglycaemia induced chorea-ballism. J Neurol Neurosurg Psychiatry. Dec 2005;76(12):1717-9. [Medline].

  90. Rubio JP, Danek A, Stone C, et al. Chorea-acanthocytosis: genetic linkage to chromosome 9q21. Am J Hum Genet. Oct 1997;61(4):899-908. [Medline].

  91. Ruiz-Sandoval JL, García-Navarro V, Chiquete E, Dobson-Stone C, Monaco AP, Alvarez-Palazuelos LE, et al. Choreoacanthocytosis in a Mexican family. Arch Neurol. Nov 2007;64(11):1661-4. [Medline].

  92. Saggese G, Baroncelli GI, Bertelloni S, et al. [Chronic granulomatous disease and McLeod phenotype. Description of a case]. Minerva Pediatr. Apr 1990;42(4):151-6. [Medline].

  93. Saiki S, Sakai K, Murata KY, Saiki M, Nakanishi M, Kitagawa Y, et al. Primary skeletal muscle involvement in chorea-acanthocytosis. Mov Disord. Apr 30 2007;22(6):848-52. [Medline].

  94. Sano A. [Hereditary chorea--update]. Rinsho Shinkeigaku. Nov 2004;44(11):932-4. [Medline].

  95. Scheid R, Bader B, Ott DV, Merkenschlager A, Danek A. Development of mesial temporal lobe epilepsy in chorea-acanthocytosis. Neurology. Oct 27 2009;73(17):1419-22. [Medline].

  96. Schneider SA, Aggarwal A, Bhatt M, Dupont E, Tisch S, Limousin P. Severe tongue protrusion dystonia: clinical syndromes and possible treatment. Neurology. Sep 26 2006;67(6):940-3. [Medline].

  97. Senda Y, Koike Y, Sugimura K, et al. [Chorea-acanthocytosis with catecholamine abnormality and orthostatic hypotension--a case report]. Rinsho Shinkeigaku. Jul 1987;27(7):898-903. [Medline].

  98. Serra S, Arena A, Xerra A, et al. Amyotrophic choreoacanthocytosis: is it really a very rare disease?. Ital J Neurol Sci. Oct 1986;7(5):521-4. [Medline].

  99. Serra S, Xerra A, Arena A. Amyotrophic choreo-acanthocytosis: a new observation in southern Europe. Acta Neurol Scand. May 1986;73(5):481-6. [Medline].

  100. Sobue G, Mukai E, Fujii K, et al. Peripheral nerve involvement in familial chorea-acanthocytosis. J Neurol Sci. Dec 1986;76(2-3):347-56. [Medline].

  101. Sotaniemi KA. Chorea-acanthocytosis. Neurological disease with acanthocytosis. Acta Neurol Scand. Jul 1983;68(1):53-6. [Medline].

  102. Spencer SE, Walker FO, Moore SA. Chorea-amyotrophy with chronic hemolytic anemia: a variant of chorea-amyotrophy with acanthocytosis. Neurology. Apr 1987;37(4):645-9. [Medline].

  103. Spitz MC, Jankovic J, Killian JM. Familial tic disorder, parkinsonism, motor neuron disease, and acanthocytosis: a new syndrome. Neurology. Mar 1985;35(3):366-70. [Medline].

  104. Sugihara R, Ueyama H, Fujimoto S, et al. [A case of McLeod syndrome]. Rinsho Shinkeigaku. Oct-Nov 1998;38(10-11):915-9. [Medline].

  105. Swash M, Schwartz MS, Carter ND, et al. Benign X-linked myopathy with acanthocytes (McLeod syndrome). Its relationship to X-linked muscular dystrophy. Brain. Sep 1983;106 (Pt 3):717-33. [Medline].

  106. Takahashi Y, Kojima T, Atsumi Y, et al. [Case of chorea-acanthocytosis with various psychotic symptoms]. Seishin Shinkeigaku Zasshi. 1983;85(8):457-72. [Medline].

  107. Takashima H, Sakai T, Iwashita H, et al. A family of McLeod syndrome, masquerading as chorea-acanthocytosis. J Neurol Sci. Jun 1994;124(1):56-60. [Medline].

  108. Terao S, Sobue G, Takahashi M, et al. [Disturbance of hypothalamic-pituitary hormone secretion in familial chorea-acanthocytosis]. No To Shinkei. Jan 1995;47(1):57-61. [Medline].

  109. Tiftikcioglu BI, Dericioglu N, Saygi S. Focal seizures originating from the left temporal lobe in a case with chorea-acanthocytosis. Clin EEG Neurosci. Jan 2006;37(1):46-9. [Medline].

  110. Tiftikcioglu BI, Dericioglu N, Saygi S. Focal seizures originating from the left temporal lobe in a case with chorea-acanthocytosis. Clin EEG Neurosci. Jan 2006;37(1):46-9. [Medline].

  111. Tsai CH, Chen RS, Chang HC, et al. Acanthocytosis and spinocerebellar degeneration: a new association?. Mov Disord. May 1997;12(3):456-9. [Medline].

  112. Tschopp L, Raina G, Salazar Z, Micheli F. Neuroacanthocytosis and carbamazepine responsive paroxysmal dyskinesias. Parkinsonism Relat Disord. 2008;14(5):440-2. [Medline].

  113. Villegas A, Moscat J, Vazquez A, et al. A new family with hereditary choreo-acanthocytosis. Acta Haematol. 1987;77(4):215-9. [Medline].

  114. Walker RH, Danek A, Dobson-Stone C, et al. Developments in neuroacanthocytosis: expanding the spectrum of choreatic syndromes. Mov Disord. Nov 2006;21(11):1794-805. [Medline].

  115. Wild EJ, Tabrizi SJ. The differential diagnosis of chorea. Pract Neurol. Nov 2007;7(6):360-73. [Medline].

  116. Witt TN, Danek A, Reiter M, et al. McLeod syndrome: a distinct form of neuroacanthocytosis. Report of two cases and literature review with emphasis on neuromuscular manifestations. J Neurol. Jul 1992;239(6):302-6. [Medline].

  117. Woodruff RK, Wiley JS, Bell WR, et al. Acanthocytosis and haemolytic anaemia due to the McLeod blood group. Aust N Z J Med. Apr 1981;11(2):184-7. [Medline].

  118. 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].

 
Previous
Next
 
Patient with choreoacanthocytosis. A: Note self-mutilation of the lips owing to orofacial dyskinesia. B: Peripheral blood smear exhibits acanthocytes (Wright-Giemsa, original magnification, >100). C: Coronal view of T1-weighted MRI shows atrophy of the caudate nuclei. Archives of Neurology 64(11):1661-1664 2007 Copyright © 2010 American Medical Association.
 
 
 
All material on this website is protected by copyright, Copyright © 1994-2012 by WebMD LLC.
This website also contains material copyrighted by 3rd parties.

DISCLAIMER: The content of this Website is not influenced by sponsors. The site is designed primarily for use by qualified physicians and other medical professionals. The information contained herein should NOT be used as a substitute for the advice of an appropriately qualified and licensed physician or other health care provider. The information provided here is for educational and informational purposes only. In no way should it be considered as offering medical advice. Please check with a physician if you suspect you are ill.