Chorea-acanthocytosis: A mimicker of Huntington disease case report and review of the literature

Neurologist

Volumn 12, Issue 6, 2006, Pages 327-329

  Gold, Menachem M ^a   Shifteh, Keivan ^a   Bello, Jacqueline A ^a   Lipton, Michael ^a   Kaufman, David M ^a   Brown, Andrew D ^a  

^a ALBERT EINSTEIN COLLEGE OF MEDICINE   (United States)

Author keywords

Chorea acanthocytosis; Neuroacanthocytosis

Indexed keywords

ACANTHOCYTOSIS; ADULT; ARTICLE; BLOOD SMEAR; CASE REPORT; CHOREA; COMPUTER ASSISTED TOMOGRAPHY; FEMALE; GENE MUTATION; HUMAN; HUNTINGTON CHOREA; NEUROLOGIC DISEASE; PRIORITY JOURNAL; SYMPTOMATOLOGY;

ADULT; BRAIN; CHOREATIC DISORDERS; DIAGNOSIS, DIFFERENTIAL; DIAGNOSTIC ERRORS; FEMALE; HUMANS; HUNTINGTON DISEASE; TOMOGRAPHY, X-RAY COMPUTED;

EID: 33751359449     PISSN: 10747931     EISSN: None     Source Type: Journal    
DOI: 10.1097/01.nrl.0000245817.18773.f4     Document Type: Article

References (36)

1. Brecher G, Bessis M. Present status of spiculed red cells and their relationship to the discocyte-echinocyte transformation: a critical review. Circulation. 1972;40:234-244.
2. Bassen FA, Kornzweig AL. Malformation of the erythrocytes in a case of atypical retinitis pigmentosa. Blood. 1950;5:381-387.
3. Salt HB, Wolff OH, Lloyd JK, et al. On having no beta-lipoprotein: a syndrome comprising abetalipoproteinemia, acanthocytosis and steatorrhea. Lancet. 1960;II:325-329.
4. Critchley EMR, Clark DB, Wikler A. An adult form of acanthocytosis. Trans Am Neurol Assoc. 1967;92:132-137.
5. Levine IM, Estes JW, Looney JM. Hereditary neurological disease with acanthocytosis. A new syndrome. Arch Neurol. 1968;19:403-409.
6. Hardie RJ, Pullon HW, Harding AE, et al. Neuroacanthocytosis. A clinical, haematological and pathological study of 19 cases. Brain. 1991;114:13-49.
7. Aasly J, Skandsen T, Ro M. Neuroacanthocytosis-the variability of presenting symptoms in two siblings. Acta Neurol Scand. 1999;100:322-325.
8. Medalia A, Merriam A, Sandberg M. Neuropsychological deficits in choreoacanthocytosis. Arch Neurol. 1989;46:573-5.
9. Kartsounis LD, Hardie RJ. The pattern of cognitive impairments in Neuroacanthocytosis. Arch Neurol. 1996;53:77-80.
10. Lossos A, Dobson-Stone C, Monaco AP, et al. Early clinical heterogeneity in choreoacanthocytosis. Arch Neurol. 2005;62:611-614.
11. Rubio JP, Danek A, Stone C, et al. Chorea-acanthocytosis: genetic linkage to chromosome 9q21. Am J Hum Genet. 1997;61:899-908.
12. Ueno S, Maruki Y, Nakamura M, et al. The gene encoding a newly discovered protein, chorein, is mutated in chorea-acanthocytosis. Nat Genet. 2001;28:121-122.
13. Dobson-Stone C, Velayos-Baeza A, Filippone LA, et al. Chorein detection for the diagnosis of chorea-acanthocytosis. Ann Neurol. 2004;56:299-302.
14. Velayos-Baeza A, Vettori A, Copley RR, et al. Analysis of the human VPS13 gene family. Genomics. 2004;84:536-549.
15. Rampoldi L, Danek A, Monaco A. Clinical features and molecular bases of neuroacanthocytosis. J Mol Med. 2002;80:475-491.
16. Wong P. A basis of the acanthocytosis in inherited and acquired disorders. Med Hypotheses. 2004;62:966-969.
17. Danek A, Walker RH. Neuroacanthocytosis. Curr Opin Neurol. 2005; 18:386-392.
18. Malandrini A, Fabrizi GM, Palmeri S, et al. Choreo-acanthocytosis like phenotype without acanthocytes: clinicopathological case report. A contribution to the knowledge of the functional pathology of the caudate nucleus. Acta Neuropathol (Berl). 1993;86:651-658.
19. Sorrentino G, De Renzo A, Miniello S, et al. Late appearance of acanthocytes during the course of chorea-acanthocytosis. J Neurol Sci. 1999;163:175-178.
20. Kapff CT, Jandl JH. Acanthocytes. Spur cells. Burr cells. In: Blood: Atlas and Sourcebook of Hematology.Baltimore, Md: Lippincott Williams & Wilkins; 1991:46.
21. Danks DM, Campbell PE, Smith AL. Prognosis of babies with neonatal hepatitis. Arch Dis Child. 1977;52:368-372.
22. Mant MJ, Faragher BS. The haematology of anorexia nervosa. Br J Haematol. 1972;23:737-749.
23. Ulshen M: Malabsorptive disorders. In: Behrman RE, et al., eds. Nelson Textbook of Pediatrics. Philadelphia, Pa: WB Saunders; 1996:1098-1099.
24. Wardrop C, Hutchison HE. Red-cell shape in hypothyroidism. Lancet. 1969;1:1243.
25. Okamoto K, Ito J, Furusawa T, et al. CT and MR findings of neuroacanthocytosis. J Comput Assist Tomogr. 1997;21:221-222.
26. Kutcher JS, Kahn MJ, Andersson HC, Foundas AL. Neuroacanthocytosis masquerading as Huntington's disease: CT/MRI findings. J Neuroimaging. 1999;9:187-189.
27. Simmons JT, Pastakia B, Chase TN, Shults CW. Magnetic resonance imaging in Huntington disease. AJNR. 1986;7:25-28.
28. Mehta SR, Muthukrishnan J, Varadarajulu. HIV-associated dementia and caudate atrophy. JAPI. 2003;51:790.
29. Bermel RA, Innus MD, Tjoa CW, Bakshi R. Selective caudate atrophy in multiple sclerosis: a 3D MRI parcellation study. Neuroreport. 2003;14:335-339.
30. Karas GB, Burton EJ, Rombouts SARB, et al. A comprehensive study of grey matter loss in patients with Alzheimer's disease using optimized voxel-based morphometry. Neuroimage. 2003;18:895-907.
31. Bloch MH, Leckman JF, Zhu H, Peterson BS. Caudate volumes in childhood predict symptom severity in adults with Tourette syndrome. Neurology. 2005;65:1253-1258.
32. Tanaka M, Hirai S, Kondo S, et al. Cerebral hypoperfusion and hypometabolism with altered striatal signal intensity in chorea-acanthocytosis: a combined PET and MRI study. Mov Disord. 1998;13:100-107.
33. Nicholl DJ, Sutton I, Dotti MT, et al. White matter abnormalities on MRI in neuroacanthocytosis. J Neurol Neurosurg Psychiatry. 2004;75:1200-1201.
34. Danek A, Rubio JP, Rampoldi L, et al. McLeod neuroacanthocytosis: genotype and phenotype. Ann Neurol. 2001;50:755-764.
35. Molina JA, Garcia-Segura JM, Benito-Leon J, et al. In vivo proton magnetic resonance spectroscopy in patients with neuroacanthocytosis. Parkinsonism and Related Disorders. 1998;4:11-15.
36. Meenakshi-Sundaram S, Arun Kumar MJ, Sridhar R, Rani U, Sundar B. Neuroacanthocytosis misdiagnosed as Huntington's disease: a case report. J Neurol Sciences. 2004;219:163-166.