Chorea-acanthocytosis in monozygotic twins: Clinical findings and neuropathological changes as detected by diffusion tensor imaging, FDG-PET and 123I-β-CIT-SPECT

Journal of Neurology

Volumn 254, Issue 8, 2007, Pages 1081-1088

  Müller Vahl, Kirsten R ^a   Berding, Georg ^a   Emrich, Hinderk M ^a   Peschel, Thomas ^a  

^a HANNOVER MEDICAL SCHOOL   (Germany)

Author keywords

123I CIT SPECT; 18F FDG PET; Chorea acanthocytosis; DTI; MRI

Indexed keywords

2 BETA CARBOMETHOXY 3 BETA (4 IODOPHENYL)TROPANE I 123; DOPAMINE TRANSPORTER; FLUORODEOXYGLUCOSE F 18; RADIOPHARMACEUTICAL AGENT; UNCLASSIFIED DRUG;

ACANTHOCYTOSIS; ADULT; ARTICLE; ATROPHY; CASE REPORT; CAUDATE NUCLEUS; CAUDATE NUCLEUS ATROPHY; CHOREA; CHOREA ACANTHOCYTOSIS; CLINICAL FEATURE; CORPUS STRIATUM; DIAGNOSTIC ERROR; DIFFUSION TENSOR IMAGING; GENERALIZED EPILEPSY; GILLES DE LA TOURETTE SYNDROME; GLUCOSE UTILIZATION; HUMAN; HYPERKINESIA; HYPOTHALAMUS; MALE; MESENCEPHALON; MONOZYGOTIC TWINS; NEUROPSYCHIATRY; NEUROTRANSMISSION; NUCLEAR MAGNETIC RESONANCE IMAGING; PARANOID SCHIZOPHRENIA; POSITRON EMISSION TOMOGRAPHY; PRESYNAPTIC NERVE; PRIORITY JOURNAL; RIGHT HEMISPHERE; SCHIZOPHRENIA; SINGLE PHOTON EMISSION COMPUTER TOMOGRAPHY;

ADULT; BRAIN MAPPING; COCAINE; DEOXYGLUCOSE; DIFFUSION MAGNETIC RESONANCE IMAGING; DISEASES IN TWINS; DOPAMINE PLASMA MEMBRANE TRANSPORT PROTEINS; FUNCTIONAL LATERALITY; HUMANS; MALE; NEUROACANTHOCYTOSIS; POSITRON-EMISSION TOMOGRAPHY; TOMOGRAPHY, EMISSION-COMPUTED, SINGLE-PHOTON; TWIN STUDIES AS TOPIC; TWINS, MONOZYGOTIC;

EID: 34548436563     PISSN: 03405354     EISSN: 14321459     Source Type: Journal    
DOI: 10.1007/s00415-006-0492-5     Document Type: Article

References (35)

1. Levine IM, Estes JW, Looney JM (1968) Hereditary neurological disease with acanthocytosis. A new syndrome. Arch Neurol 19:403-409
2. Levine IM, Yettra M, Stefanini M (1960) A hereditary neurological disorder with acanthocytosis. Neurology 10:425
3. Critchley EM, Clark DB, Wikler A (1968) Acanthocytosis and neurological disorder without betalipoproteinemia. Arch Neurol 18:134-140
4. Critchley EM, Clark DB, Wikler A (1967) An adult form of acanthocytosis. Trans Am Neurol Assoc 92:132-137
5. Danek A, Walker RH (2005) Neuroacanthocytosis. Curr Opin Neurol 18:386-392
6. Rampoldi L, Dobson-Stone C, Rubio JP, Danek A, Chalmers RM, Wood NW, Verellen C, Ferrer X, Malandrini A, Fabrizi GM, Brown R, Vance J, Pericak-Vance M, Rudolf G, Carre S, Alonso E, Manfredi M, Nemeth AH, Monaco AP (2001) A conserved sorting-associated protein is mutant in chorea-acanthocytosis. Nat Genet 28:119-120
7. Ueno S, Maruki Y, Nakamura M, Tomemori Y, Kamae K, Tanabe H, Yamashita Y, Matsuda S, Kaneko S, Sano A (2001) The gene encoding a newly discovered protein, chorein, is mutated in chorea-acanthocytosis. Nat Genet 28:121-122
8. Dobson-Stone C, Velayos-Baeza A, Filippone LA, Westbury S, Storch A, Erdmann T, Wroe SJ, Leenders KL, Lang AE, Dotti MT, Federico A, Mohiddin SA, Fananapazir L, Daniels G, Danek A, Monaco AP (2004) Chorein detection for the diagnosis of chorea-acanthocytosis. Ann Neurol 56:299-302
9. Danek A, Jung HH, Melone MA, Rampoldi L, Broccoli V, Walker RH (2005) Neuroacanthocytosis: new developments in a neglected group of dementing disorders. J Neurol Sci 15:229-230
10. Möbes J, Buddensiek N, Dengler R, Emrich HM, Peschel T, Müller-Vahl K (2006) Neuropsychologische Störungen bei einem monozygoten Zwillingspaar mit Chorea-Akanthozytose. Z Neuropsychol 17:123-130
11. Storch A, Kornhass M, Schwarz J (2005) Testing for acanthocytosis A prospective reader-blinded study in movement disorder patients. J Neurol 252:84-90
12. 18F]FDG-PET. Mov Disord 16:1014-1022
13. 123I]beta-CIT SPECT imaging of dopamine and serotonin transporters in Parkinson's disease and multiple system atrophy. Nuklearmedizin 42:31-38
14. Müller-Vahl KR, Berding G, Brücke T, Kolbe H, Meyer GJ, Hundeshagen H, Dengler R, Knapp WH, Emrich HM (2000) Dopamine transporter binding in Gilles de la Tourette syndrome. J Neurol 247:514-520
15. Müller-Vahl KR, Meyer GJ, Knapp WH, Emrich HM, Gielow P, Brücke T, Berding G (2005) Serotonin transporter binding in Tourette Syndrome. Neurosci Lett 385:120-125
16. Bohlega S, Al-Jishi A, Dobson-Stone C, Rampoldi L, Saha P, Murad H, Kareem A, Roberts G, Monaco AP (2003) Chorea-acanthocytosis: clinical and genetic findings in three families from the Arabian peninsula. Mov Disord 18:403-407
17. Bruneau MA, Lesperance P, Chouinard S (2003) Schizophrenia-like presentation of neuroacanthocytosis. J Neuropsychiatry Clin Neurosci 15:378-380
18. Rovito DA, Pirone FJ (1963) Acanthrocytosis associated with schizophrenia. Am J Psychiatry 120:182-185
19. Takahashi Y, Kojima T, Atsumi Y, Okubo Y, Shimazono Y (1983) Case of chorea-acanthocytosis with various psychotic symptoms. Seishin Shinkeigaku Zasshi 85:457-472
20. Danek A, Sheesley L, Tierney M, Uttnerr I, Grafman J (2005) Cognitive and neuropsychiatric findings in McLeod syndrome and in choreaacanthocytosis. In: Danek A (ed) Neuroacanthocytosis syndromes. Kluwer Academic Pub, Dordrecht, pp 95-115
21. Miranda M, Campero M, Tenhamm E, Villagra R (1993) Neuroacanthocytosis: report of 3 cases. Rev Med Chil 121:176-179
22. Saiki S, Hirose G, Sakai K, Matsunari I, Higashi K, Saiki M, Kataoka S, Hori A, Shimazaki K (2004) Chorea-acanthocytosis associated with Tourettism. Mov Disord 19:833-836
23. Spitz MC, Jankovic J, Killian JM (1985) Familial tic disorder, parkinsonism, motor neuron disease, and acanthocytosis: a new syndrome. Neurology 35:366-370
24. Meierkord H (2005) Epilepsy in neuroacanthocytosis. In: Danek A (ed) Neuroacanthocytosis syndromes. Kluwer Academic Pub, Dordrecht, pp 117-122
25. Al-Asmi A, Jansen AC, Badhwar A, Dubeau F, Tampieri D, Shustik C, Mercho S, Savard G, Dobson-Stone C, Monaco AP, Andermann F, Andermann E (2005) Familial temporal lobe epilepsy as a presenting feature of choreoacanthocytosis. Epilepsia 46:1256-1263
26. Dotti MT, Malandrini A, Federico A (2005) Neuromuscular findings in eight Italian families with neuroacanthocytosis. In: Danek A (ed) Neuroacanthocytosis syndromes. Kluwer Academic Pub, Dordrecht, pp 127-137
27. Hardie RJ, Pullon HWH, Harding AE, Owen JS, Pires M, Daniels GL, Imai Y, Misra VP, King RHM, Jacobs JM, Tippett P, Duchen LW, Thomas PK, Marsden CD (1991) Neuroacanthocytosis. A clinical, haematological and pathological study of 19 cases. Brain 114:13-49
28. Marson AM, Bucciantini E, Gentile E, Geda C (2003) Neuroacanthocytosis: clinical, radiological, and neurophysiological findings in an Italian family. Neurol Sci 24:188-189
29. Tanaka M, Hirai S, Kondo S, Sun X, Nakagawa T, Tanaka S, Hayashi K, Okamoto K (1998) Cerebral hypoperfusion and hypometabolism with altered striatal signal intensity in chorea-acanthocytosis: a combined PET and MRI study. Mov Disord 13:100-107
30. Nicholl DJ, Sutton I, Dotti MT, Supple SG, Danek A, Lawden M (2004) White matter abnormalities on MRI in neuroacanthocytosis. J Neurol Neurosurg Psychiatry 75:1200-1201
31. Henkel K, Danek A, Grafman J, Butman J, Kassubek J (2006) Head of the caudate nucleus is most vulnerable in chorea-acanthocytosis: a voxel-based morphometry study. Mov Disord 2006 [Epub ahead of print]
32. Dubinsky RM, Hallett M, Levey R, Di Chiro G (1989) Regional brain glucose metabolism in neuroacanthocytosis. Neurology 39:1253-1255
33. Brooks DJ, Ibanez V, Playford ED, Sawle GV, Leigh PN, Kocen RS, Harding AE, Marsden CD (1991) Presynaptic and postsynaptic striatal dopaminergic function in neuroacanthocytosis: a positron emission tomographic study. Ann Neurol 30:166-171
34. Arzberger T, Heinsen H, Buresch N, Dobson-Stone C, Danek A, Kretzschmar H (2005) The neuropathology of chorea-acanthocytosis: from stereology to an immunohistochemical detection of chorein. Mov Disord 20:1679
35. Vital A, Bouillot S, Burbaud P, Ferrer X, Vital C (2002) Chorea-acanthocytosis: neuropathology of brain and peripheral nerve. Clin Neuropathol 21:77-81