Download PDF
Fortschr Neurol Psychiatr 2017; 85(05): 270-273
DOI: 10.1055/s-0042-123042
Übersicht
© Georg Thieme Verlag KG Stuttgart · New York

Frühdiagnose der Chorea-Akanthozytose: orofaziale Dyskinesien, epileptische Anfälle und HyperCKämie

Early Diagnosis of Chorea-Acanthocytosis: Orofacial Dyskinesia, Epileptic Seizures, and HyperCKemia
Christian Schneider
1   Klinik und Poliklinik für Neurologie, Uniklinik Köln
,
Adrian Danek
2   Neurologische Klinik und Poliklinik, Ludwig-Maximilians-Universität München
,
Arwed Hostmann
3   Institut für Klinische Chemie, Uniklinik Köln
,
Gereon R. Fink
1   Klinik und Poliklinik für Neurologie, Uniklinik Köln
4   Institut für Neurowissenschaften und Medizin (INM 3), Forschungszentrum Jülich
,
Lothar Burghaus
5   Klinik für Neurologie, Heilig Geist-Krankenhaus, Köln
› Author Affiliations
Further Information

Publication History

Publication Date:
23 May 2017 (online)

    Permissions and Reprints

Zusammenfassung

Die Chorea-Akanthozytose ist eine seltene neurodegenerative Erkrankung, deren Diagnose in der Frühphase eine klinische Herausforderung darstellt. Bei Auftreten der Trias orofaziale Dyskinesien, epileptische Anfälle und HyperCKämie sollte frühzeitig der Verdacht auf ein Neuroakanthozytose-Syndrom gestellt werden. Nach Ausschluss von Differenzialdiagnosen wird die Diagnose durch Nachweis einer Chorein-Defizienz oder molekulargenetisch (VPS13A-Mutation) gesichert.

Abstract

Chorea-acanthocytosis is an uncommon neurodegenerative disorder. Early diagnosis is often challenging. The triad of orofacial dyskinesia, epileptic seizures, and hyperCKemia should alert neurologists of a neuroacanthocytosis syndrome. The diagnosis can be confirmed by detection of chorein deficiency or through molecular genetics (VPS13A mutation).

Schlüsselwörter

Neuroakanthozytose-Syndrome - Chorea-Akanthozytose - orofaziale Dyskinesien - epileptische Anfälle - HyperCKämie

Key words

neuroacanthocytosis syndromes - chorea-acanthocytosis - orofacial dyskinesia - epileptic seizure - hyperCKemia
 

  • Literatur

  • 1 Velayos Baeza A. Dobson-Stone C. Rampoldi L. et al. Chorea-Acanthocytosis, GeneReviews(®). 2014
    PubMedGoogle Scholar
  • 2 Walterfang M. Yucel M. Walker R. et al. Adolescent obsessive compulsive disorder heralding chorea-acanthocytosis. Mov Disord 2008; 23 (03) 422-425
    CrossrefPubMedGoogle Scholar
  • 3 Meierkord H. Epilepsy in Neuroacanthocytosis. Neuroacanthocytosis Syndr. Springer: Netherlands; 2004: 117-122
    Google Scholar
  • 4 Al-Asmi A. Jansen AC. Badhwar A. et al. Familial Temporal Lobe Epilepsy as a Presenting Feature of Choreoacanthocytosis. Epilepsia 2005; 46 (08) 1256-1263
    CrossrefPubMedGoogle Scholar
  • 5 Yoshida M. Yamada S. Ozaki Y. et al. Phenytoin-induced orofacial dyskinesia. A case report. J Neurol 1985; 231 (06) 340-342
    CrossrefPubMedGoogle Scholar
  • 6 Bader B. Walker RH. Vogel M. et al. Tongue protrusion and feeding dystonia: A hallmark of chorea-acanthocytosis. Mov Disord 2010; 25 (01) 127-129
    CrossrefPubMedGoogle Scholar
  • 7 Danek A. Fortschritte in der molekularen Chorea-Diagnostik McLeod-Syndrom und Chorea-Akanthozytose. Nervenarzt 2002; 73 (06) 564-569
    CrossrefPubMedGoogle Scholar
  • 8 Bostantjopoulou S. Katsarou Z. Kazis A. et al. Neuroacanthocytosis presenting as Parkinsonism. Mov Disord 2000; 15 (06) 1271-1273
    CrossrefPubMedGoogle Scholar
  • 9 Gross KB. Skrivanek JA. Carlson KC. et al. Familial amyotrophic chorea with acanthocytosis: New clinical and laboratory investigations. Arch Neurol 1985; 42 (08) 753-756
    CrossrefPubMedGoogle Scholar
  • 10 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 (02) 121-122
    CrossrefPubMedGoogle Scholar
  • 11 Rampoldi L. Dobson-Stone C. Rubio JP. et al. A conserved sorting-associated protein is mutant in chorea-acanthocytosis. Nat Genet 2001; 28 (02) 119-120
    CrossrefPubMedGoogle Scholar
  • 12 Velayos-Baeza A. Lévecque C. Dobson-Stone C. et al. The Function of Chorein. Neuroacanthocytosis Syndr II. Springer: 2008: 87-105
    Google Scholar
  • 13 Rampoldi L. Danek A. Monaco AP. Clinical features and molecular bases of neuroacanthocytosis. J Mol Med 2002; 80 (08) 475-491
    CrossrefPubMedGoogle Scholar
  • 14 Storch A. Kornhass M. Schwarz J. Testing for acanthocytosis. J Neurol 2005; 252 (01) 84-90
    CrossrefPubMedGoogle Scholar
  • 15 Barr AN. Heinze WJ. Dobben GD. et al. Bicaudate index in computerized tomography of Huntington disease and cerebral atrophy. Neurology 1978; 28 (11) 1196-1196
    CrossrefPubMedGoogle Scholar
  • 16 Dubinsky RM. Hallett M. Levey R. et al. Regional brain glucose metabolism in neuroacanthocytosis. Neurology 1989; 39 (09) 1253-1255
    CrossrefPubMedGoogle Scholar
  • 17 Danek A. Rubio JP. Rampoldi L. et al. McLeod neuroacanthocytosis: Genotype and phenotype. Ann Neurol 2001; 50 (06) 755-764
    CrossrefPubMedGoogle Scholar
  • 18 Buruma OJS. Roos RAC. Bruyn GW. et al. Tiapride in the treatment of tardive dyskinesia. Acta Neurol Scand 1982; 65 (01) 38-44
    CrossrefPubMedGoogle Scholar
  • 19 Bonuccelli U. Ceravolo R. Maremmani C. et al. Clozapine in Huntington’s chorea. Neurology 1994; 44 (05) 821-823
    CrossrefPubMedGoogle Scholar
  • 20 Jankovic J. Orman J. Tetrabenazine therapy of dystonia, chorea, tics, and other dyskinesias. Neurology 1988; 38 (03) 391-394
    CrossrefPubMedGoogle Scholar
  • 21 Mclellan DL. Chalmers RJ. Johnson RH. A double-blind trial of tetrabenazine, thiopropazate, and placebo in patients with chorea. The Lancet 1974; 1: 104-107
    PubMedGoogle Scholar
  • 22 Schneider SA. Aggarwal A. Bhatt M. et al. Severe tongue protrusion dystonia Clinical syndromes and possible treatment. Neurology 2006; 67 (06) 940-943
    CrossrefPubMedGoogle Scholar
  • 23 Miquel M. Spampinato U. Latxague C. et al. Short and Long Term Outcome of Bilateral Pallidal Stimulation in Chorea-Acanthocytosis. PLoS ONE 2013; 8 (11) e79241
    CrossrefPubMedGoogle Scholar
  • 24 Schwartz MS. Monro PS. Leigh PN. Epilepsy as the presenting feature of neuroacanthocytosis in siblings. J Neurol 1992; 239 (05) 261-262
    PubMedGoogle Scholar
  • 25 Sorrentino G. De Renzo A. Miniello S. et al. Late appearance of acanthocytes during the course of chorea-acanthocytosis. J Neurol Sci 1999; 163 (02) 175-178
    CrossrefPubMedGoogle Scholar