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Cognitive and Neuropsychiatric Findings in McLeod Syndrome and in Chorea-Acanthocytosis

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Neuroacanthocytosis Syndromes

Abstract

Serial assessment of patient MT with McLeod syndrome (MLS) and a cross-sectional study in nine patients with genetically confirmed chorea-acanthocytosis (ChAc) are presented along with a review of more than 20 case reports each from the literature. The cognitive and neuropsychiatric findings may be summarized as a “fronto-subcortical syndrome” but are not unique to either condition since a similar syndrome is also shared by other basal ganglia degenerations, most notably Huntington’s disease. Some distinction may be made on the basis of age of neuropsychiatric manifestations (MLS: fourth to fifth decade — ChAc: second to third decade) and the more pronounced features of ChAc. Correlation with the involvement of specific fronto-subcortical loops may be possible in the future.

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References

  1. Aguilar i Bascompte JL, Berga L, Merino A, Domenech JM, Vives-Corrons JL (1988) A further case of choreo-acanthocytosis. Acta Haematol Basel 80: 175–176.

    Google Scholar 

  2. Alexander GE, Crutcher MD, DeLong MR (1990) Basal ganglia-thalamocortical circuits: parallel substrates for motor, oculomotor, “prefrontal” and “limbic” functions. Prog Brain Res 85: 119–146.

    PubMed  CAS  Google Scholar 

  3. Alonso ME, Teixeira F, Jimenez G, Escobar A (1989) Chorea-acanthocytosis: Report of a family and neuropathological study of two cases. Can J Neurol Sci 16: 426–431.

    PubMed  CAS  Google Scholar 

  4. Bäckman L, Robins-Wahlin TB, Lundin A, Ginovart N, Farde L (1997) Cognitive deficits in Huntington’s disease are predicted by dopaminergic PET markers and brain volumes. Brain 120: 2207–2217.

    Article  PubMed  Google Scholar 

  5. Bäumler G (1984) Farbe-Wort-Interferenztest (FWIT) nach J.R.Stroop. Verlag für Psychologie Dr. C.J. Hogrefe, Göttingen

    Google Scholar 

  6. Benton AL (1990) Der Benton-Test. Huber, Bern

    Google Scholar 

  7. Benton AL, Hamsher KS, Varney NR, Spreen O (1983) Contributions to neuropsychological assessment. Oxford University Press, New York

    Google Scholar 

  8. Bird TD, Cederbaum S, Valpey RW, Stahl WL (1978) Familial degeneration of the basal ganglia with acanthocytosis: A clinical, neuropathological, and neurochemical study. Ann Neurol 3: 253–258.

    Article  PubMed  CAS  Google Scholar 

  9. Bohlega S, Al Jishi A, Dobson-Stone C et al (2003) Chorea-acanthocytosis: Clinical and genetic findings in three families from the Arabian peninsula. Mov Dis 18: 403–407.

    Article  Google Scholar 

  10. Bohlega S, Riley W, Powe J, Baynton R, Roberts G (1998) Neuroacanthocytosis and aprebetalipoproteinemia. Neurology 50: 1912–1914.

    PubMed  CAS  Google Scholar 

  11. Borchardt CM, Jensen C, Dean CE, Tori J (2000) Case study: Childhood-onset tardive dyskinesia versus choreoacanthocytosis. J Am Acad Child Adolesc Psychiatry 39: 1055–1058.

    Article  PubMed  CAS  Google Scholar 

  12. Brin MF, Hays A, Symmans WA, Marsh WL, Rowland LP (1993) Neuropathology of McLeod phenotype is like choreaacanthocytosis (CA). Can J Neurol Sci 20(Suppl.): S234.

    Article  Google Scholar 

  13. Bruneau MA, Lesperance P, Chouinard S (2003) Schizophrenia-like presentation of neuroacanthocytosis. J Neuropsychiatry Clin Neurosci 15: 378–380.

    PubMed  Google Scholar 

  14. Burbaud P, Rougier A, Ferrer X et al (2002) Improvement of severe trunk spasms by bilateral high-frequency stimulation of the motor thalamus in a patient with choreaacanthocytosis. Mov Dis 17: 204–207.

    Article  Google Scholar 

  15. Burbaud P, Vital A, Rougier A et al (2002) Minimal tissue damage after stimulation of the motor thalamus in a case of chorea-acanthocytosis. Neurology 59: 1982–1984.

    PubMed  CAS  Google Scholar 

  16. Burruss JW, Hurley RA, Taber KH et al (2000) Functional neuroanatomy of the frontal lobe circuits. Radiology 214: 227–230.

    PubMed  CAS  Google Scholar 

  17. Lehéricy S, Ducros M, Van de Moortele PF et al (2004) Diffusion tensor fiber tracking shows distinct corticostriatal circuits in humans. Ann Neurol 55: 522–529.

    Article  PubMed  Google Scholar 

  18. Buschke H, Fuld PA (1974) Evaluating storage, retention, and retrieval in disordered memory and learning. Neurology 24: 1019–1025.

    PubMed  CAS  Google Scholar 

  19. Critchley EMR, Betts JJ, Nicholson JT, Weatherall DJ (1970) Acanthocytosis, normolipoproteinemia and multiple tics. Postgrad Med J 46: 698–701.

    PubMed  CAS  Google Scholar 

  20. Critchley EMR, Clark DB, Wikler A (1967) An adult form of acanthocytosis. Trans Am Neurol Assoc 92: 132–137.

    PubMed  CAS  Google Scholar 

  21. Cummings JL (1993) Frontal-subcortical circuits and human behavior. Arch Neurol 50: 873–880.

    PubMed  CAS  Google Scholar 

  22. Danek A, Rubio JP, Rampoldi L et al (2001) McLeod neuroacanthocytosis: Genotype and phenotype. Ann Neurol 50: 755–764.

    Article  PubMed  CAS  Google Scholar 

  23. Danek A, Sheesley L, Tierney M, Grafman J (2003) Cognitive findings in patients with chorea-acanthocytosis. J Int Neuropsychol Soc 9: 528.

    Google Scholar 

  24. Danek A, Tison F, Rubio J et al (2001) The chorea of McLeod syndrome. Mov Dis 16: 882–889.

    Article  CAS  Google Scholar 

  25. Danek A, Uttner I, Vogl T, Tatsch K, Witt TN (1994) Cerebral involvement in McLeod syndrome. Neurology 44: 117–120.

    PubMed  CAS  Google Scholar 

  26. Danek A, Witt TN, Stockmann HBAC et al (1990) Normal dystrophin in McLeod myopathy. Ann Neurol 28: 720–722.

    Article  PubMed  CAS  Google Scholar 

  27. de Yébenes JG, Brin MF, Mena MA et al (1988) Neurochemical findings in neuroacanthocytosis. Mov Dis 3: 300–312.

    Article  Google Scholar 

  28. Delecluse F, Deleval J, Gérard J-M, Michotte A, Zegers de Beyl D (1991) Frontal impairment and hypoperfusion in neuroacanthocytosis. Arch Neurol 48: 232–234.

    PubMed  CAS  Google Scholar 

  29. Delis DC, Kramer JH, Kaplan E, Ober BA (2000) CVLT-II, California Verbal Learning Test, Second Edition — Adult Version. The Psychological Corporation, San Antonio, TX

    Google Scholar 

  30. Dobson-Stone C, Danek A, Rampoldi L et al (2002) Mutational spectrum of the CHAC gene in patients with chorea-acanthocytosis. Eur J Hum Genet 10: 773–781.

    Article  PubMed  CAS  Google Scholar 

  31. Dotti MT, Battisti C, Malandrini A et al (2000) McLeod syndrome and neuroacanthocytosis with a novel mutation in the XK gene. Mov Dis 15: 1282–1284.

    Article  CAS  Google Scholar 

  32. Dubinsky RM, Hallett M, Levey R, DiChiro G (1989) Regional brain glucose metabolism in neuroacanthocytosis. Neurology 39: 1253–1255.

    PubMed  CAS  Google Scholar 

  33. Ferrer X, Julien J, Vital C, Lagueny A, Tison F (1990) La Chorée-acanthocytose. Rev Neurol (Paris) 146: 739–745.

    PubMed  CAS  Google Scholar 

  34. Foroud T, Siemers E, Kleindorfer D, Bill DJ (1995) Cognitive scores in carriers of Huntington’s disease gene compared to noncarriers. Ann Neurol 37: 657–664.

    Article  PubMed  CAS  Google Scholar 

  35. Fujimoto Y, Isozaki E, Yokochi F et al (1997) A case of chorea-acanthocytosis successfully treated with posteroventral pallidotomy [Japanese]. Clin Neurol (Tokyo) 37: 891–894.

    CAS  Google Scholar 

  36. Gradstein L, Danek A, Grafman J, Fitzgibbon EJ (2003) Eye movements in choreaacanthocytosis. Invest Ophthalmol Vis Sci 44: 1934.

    Google Scholar 

  37. Grant DA and Berg EA (1948) The Wisconsin Card Sorting Test. Psychological Assessment Resources, Inc., Odessa, Florida

    Google Scholar 

  38. Hahm DS, Kang Y, Cheong SS, Na DL (2001) A compulsive collecting behavior following an A-com aneurysmal rapture. Neurology 56: 398–400.

    PubMed  CAS  Google Scholar 

  39. Hahn-Barma V, Deweer B, Durr A et al (1998) Are cognitive changes the first symptoms of Huntington’s disease? A study of gene carriers. J Neurol Neurosurg Psychiatry 64: 172–177.

    Article  PubMed  CAS  Google Scholar 

  40. Hardie RJ, Pullon HWH, Harding AE et al (1991) Neuroacanthocytosis: A clinical, haematological and pathological study of 19 cases. Brain 114: 13–49.

    PubMed  Google Scholar 

  41. Harper PS (1996) Huntington’s Disease. W.B. Saunders, London, Philadelphia, Toronto, Sydney, Tokyo

    Google Scholar 

  42. Hiersemenzel L-P, Johannes S, Themann P, Hofferberth B (1996) Die Choreoakanthozytose, ein neurologisch-hämatologisches Syndrom. Nervenarzt 67: 490–495.

    PubMed  CAS  Google Scholar 

  43. Ho MF, Chalmers RM, Davis MB, Harding AE, Monaco AP (1996) A novel point mutation in the McLeod syndrome gene in neuroacanthocytosis. Ann Neurol 39: 672–675.

    Article  PubMed  CAS  Google Scholar 

  44. Ilmberger J (1988) Münchner Verbaler Gedächtnistest. Institut für Medizinische Psychologie der Universität München

    Google Scholar 

  45. Joy S, Fein D, Kaplan E (2003) Decoding digit symbol: speed, memory, and visual scanning. Assessment 10: 56–65.

    Article  PubMed  Google Scholar 

  46. Jung HH, Hergersberg M, Kneifel S et al (2001) McLeod syndrome: A novel mutation, predominant psychiatric manifestations, and distinct striatal imaging findings. Ann Neurol 49: 384–392.

    Article  PubMed  CAS  Google Scholar 

  47. Kaplan PW, Erwin CE, Bowman MH, Massey EW (1986) Evoked potentials in choreoacanthocytosis. Electroenceph clin Neurophys 63: 349–352.

    Article  CAS  Google Scholar 

  48. Kartsounis LD, Hardie RJ (1996) The pattern of cognitive impairment in neuroacanthocytosis. A frontosubcortical dementia. Arch Neurol 53: 77–80.

    PubMed  CAS  Google Scholar 

  49. Kirkwood SC, Siemers E, Hodes ME et al (2000) Subtle changes among presymptomatic carriers of the Huntington’s disease gene. J Neurol Neurosurg Psychiatry 69: 773–779.

    Article  PubMed  CAS  Google Scholar 

  50. Kirkwood SC, Siemers E, Stout JC et al (1999) Longitudinal cognitive and motor changes among presymptomatic Huntington disease gene carriers. Arch Neurol 56: 563–568.

    Article  PubMed  CAS  Google Scholar 

  51. Kito S, Itoga E, Hiroshige Y, Matsumoto N, Miwa S (1980) A pedigree of amyotrophic chorea with acanthocytosis. Arch Neurol 37: 514–517.

    PubMed  CAS  Google Scholar 

  52. Lauterbach EC, Cummings JL, Duffy J et al (1998) Neuropsychiatric correlates and treatment of lenticulostriatal diseases: A review of the literature and overview of research opportunities in Huntington’s, Wilson’s, and Fahr’s diseases. J Neuropsychiatry Clin Neurosci 10: 249–266.

    PubMed  CAS  Google Scholar 

  53. Levine IM, Estes JW, Looney JB (1968) Hereditary neurological disease with acanthocytosis, a new syndrome. Arch Neurol 19: 403–409.

    PubMed  CAS  Google Scholar 

  54. Limos LC, Ohnishi A, Sakai T et al (1982) “Myopathic” changes in chorea-acanthocytosis. J Neurol Sci 55: 49–58.

    Article  PubMed  CAS  Google Scholar 

  55. Malandrini A, Fabrizi GM, Palmeri S et al (1993) Choreo-acanthocytosis like phenotype without acanthocytes: Clinicopathological case report. Acta Neuropathol (Berl) 86: 651–658.

    Article  PubMed  CAS  Google Scholar 

  56. Malandrini A, Fabrizi GM, Truschi F et al (1994) Atypical McLeod syndrome manifested as X-linked chorea-acanthocytosis, neuromyopathy and dilated cardiomyopathy: Report of a family. J Neurol Sci 124: 89–94.

    Article  PubMed  CAS  Google Scholar 

  57. Marsh WL, Marsh NJ, Moore A et al (1981) Elevated serum creatine phosphokinase in subjects with McLeod syndrome. Vox Sang 40: 403–411.

    Article  PubMed  CAS  Google Scholar 

  58. Medalia A, Merriam A, Sandberg M (1989) Neuropsychological deficits in choreoacanthocytosis. Arch Neurol 46: 573–575.

    PubMed  CAS  Google Scholar 

  59. Mitrushina MN, Boone KB, D’Elia LF (1999) Handbook of Normative Data for Neuropsychological Assessment. Oxford University Press, New York, Oxford

    Google Scholar 

  60. Nelson HE, Willison JR (1991) The National Adult Reading Test (NART). NFER-Nelson, Windsor

    Google Scholar 

  61. Nicholl DJ, Sutton I, Dotti MT et al (2004) White matter abnormalities on MRI in neuroacanthocytosis. J Neurol Neurosurg Psychiatry 75: 1200–1201.

    Article  PubMed  CAS  Google Scholar 

  62. Oechsner M, Buchert R, Beyer W, Danek A (2001) Reduction of striatal glucose metabolism in McLeod choreoacanthocytosis. J Neurol Neurosurg Psychiatry 70: 517–520.

    Article  PubMed  CAS  Google Scholar 

  63. Osterrieth PA (1944) Le test de copie d’une figure complexe. Arch Psychol 30: 206–356.

    Google Scholar 

  64. Rampoldi L, Dobson-Stone C, Rubio JP et al (2001) A conserved sorting-associated protein is mutant in chorea-acanthocytosis. Nat Genet 28: 119–120.

    Article  PubMed  CAS  Google Scholar 

  65. Rinne JO, Daniel SE, Scaravilli F, Harding AE, Marsden CD (1994) Nigral degeneration in neuroacanthocytosis. Neurology 44: 1629–1632.

    PubMed  CAS  Google Scholar 

  66. Rinne JO, Daniel SE, Scaravilli F et al (1994) The neuropathological features of neuroacanthocytosis. Mov Dis 9: 297–304.

    Article  CAS  Google Scholar 

  67. Rovito DA, Pirone FJ (1963) Acanthrocytosis associated with schizophrenia. Am J Psychiatry 120: 182–185.

    PubMed  CAS  Google Scholar 

  68. Rubio JP, Danek A, Stone C et al (1997) Chorea-acanthocytosis: Genetic linkage to chromosome 9q21. Am J Hum Genet 61: 899–908.

    PubMed  CAS  Google Scholar 

  69. Sánchez-Pernaute R, Künig G, del Barrio Alba A et al (2000) Bradykinesia in early Huntington’s disease. Neurology 54: 119–125.

    PubMed  Google Scholar 

  70. Serra S, Arena A, Xerra A, Gugliotta AM, Galatioto S (1986) Amyotrophic choreoacanthocytosis: Is it really a very rare disease? Ital J Neurol Sci 7: 521–524.

    Article  PubMed  CAS  Google Scholar 

  71. Sorrentino G, De Renzo A, Miniello S, Nori O, Bonvita V (1999) Late appearance of acanthocytes during the course of chorea-acanthocytosis. J Neurol Sci 163: 175–178.

    Article  PubMed  CAS  Google Scholar 

  72. Symmans WA, Shepherd CS, Marsh WL et al (1979) Hereditary acanthocytosis associated with the McLeod phenotype of the Kell blood group system. Br J Haematol 42: 575–583.

    PubMed  CAS  Google Scholar 

  73. Tewes U (1991) HAWIE-R: Hamburg-Wechsler Intelligenztest für Erwachsene. HAWIER. Bern, Huber.

    Google Scholar 

  74. Troiano AR, Trevisol-Bittencourt PC (1999) Neuroacantocitose, relato de caso. Arq Neuropsiquiatr 57: 489–494.

    PubMed  CAS  Google Scholar 

  75. Vance JM, Pericak-Vance MA, Bowman MH et al (1987) Chorea-Acanthocytosis: A report of three new families and implications for genetic counselling. Am J Med Genet 28: 403–410.

    Article  PubMed  CAS  Google Scholar 

  76. Vital A, Bouillot S, Burbaud P, Ferrer X, Vital C (2002) Chorea-acanthocytosis: Neuropathology of brain and peripheral nerve. Clin Neuropathol 21: 77–81.

    PubMed  CAS  Google Scholar 

  77. von Cramon DY, Hebel N, Schuri U (1988) Verbal memory and learning in unilateral posterior cerebral artery infarction. Brain 111: 1061–1077.

    Google Scholar 

  78. Wechsler, D. (1997) WAIS-III, Wechsler Adult Intelligence Scale, Third Edition. The Psychological Corporation, San Antonio, TX

    Google Scholar 

  79. Wihl G, Volkmann J, Allert N et al (2001) Deep brain stimulation of the internal pallidum did not improve chorea in a patient with neuro-acanthocytosis. Mov Dis 16: 572–575.

    Article  CAS  Google Scholar 

  80. Witt TN, Danek A, Reiter M et al (1992) McLeod syndrome: A distinct form of neuroacanthocytosis. J Neurol 239: 302–306.

    Article  PubMed  CAS  Google Scholar 

  81. Wyszynski B, Merriam A, Medalia A, Lawrence C (1989) Choreoacanthocytosis: Report of a case with psychiatric features. Neuropsychiatry, Neuropsychol Behav Neurol 2: 137–144.

    Google Scholar 

  82. Yamamoto T, Hirose G, Shimazaki K et al (1982) Movement disorders of familial neuroacanthocytosis syndrome. Arch Neurol 39: 298–301.

    PubMed  CAS  Google Scholar 

  83. Jung HH, Haker H (2004) Schizophrenia as a manifestation of X-linked McLeod-neuroacanthocytosis syndrome. J Clin Psychiatry 65: 722–723.

    Article  PubMed  Google Scholar 

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Authors and Affiliations

  1. Neurologische Klinik, Ludwig-Maximilians-Universität, München, Germany

    Adrian Danek & Ingo Uttner

  2. Cognitive Neuroscience Section, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD, USA

    Adrian Danek, Laura Sheesley, Michael Tierney & Jordan Grafman

  3. Neurologische Klinik, Universität Ulm, Germany

    Ingo Uttner

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  1. Neurologische Klinik, Ludwig-Maximilians Universität München, Germany

    Adrian Danek

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Danek, A., Sheesley, L., Tierney, M., Uttner, I., Grafman, J. (2004). Cognitive and Neuropsychiatric Findings in McLeod Syndrome and in Chorea-Acanthocytosis. In: Danek, A. (eds) Neuroacanthocytosis Syndromes. Springer, Dordrecht. https://doi.org/10.1007/1-4020-2898-9_12

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