[Early Diagnosis of Chorea-Acanthocytosis: Orofacial Dyskinesia, Epileptic Seizures, and HyperCKemia]
- PMID: 28561176
- DOI: 10.1055/s-0042-123042
[Early Diagnosis of Chorea-Acanthocytosis: Orofacial Dyskinesia, Epileptic Seizures, and HyperCKemia]
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).
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.
© Georg Thieme Verlag KG Stuttgart · New York.
Conflict of interest statement
Disclosure The authors report no conflicts of interest in this work.
Similar articles
-
Seizures as presenting and prominent symptom in chorea-acanthocytosis with c.2343del VPS13A gene mutation.Epilepsia. 2016 Apr;57(4):549-56. doi: 10.1111/epi.13318. Epub 2016 Jan 27. Epilepsia. 2016. PMID: 26813249
-
[Case-report of neuroacanthocytosis associated with a compound mutation in the VPS13A gene].Zh Nevrol Psikhiatr Im S S Korsakova. 2021;121(9):104-110. doi: 10.17116/jnevro2021121091104. Zh Nevrol Psikhiatr Im S S Korsakova. 2021. PMID: 34693697 Russian.
-
Compound Heterozygous VPS13A Variants in a Patient with Neuroacanthocytosis: A Case Report and Review of the Literature.Lab Med. 2022 Jul 4;53(4):433-435. doi: 10.1093/labmed/lmab124. Lab Med. 2022. PMID: 35075478 Review.
-
Dominant transmission of chorea-acanthocytosis with VPS13A mutations remains speculative.Acta Neuropathol. 2009 Jan;117(1):95-6; author reply 97-8. doi: 10.1007/s00401-008-0418-7. Epub 2008 Jul 26. Acta Neuropathol. 2009. PMID: 18661137 No abstract available.
-
Current state of knowledge in Chorea-Acanthocytosis as core Neuroacanthocytosis syndrome.Eur J Med Genet. 2018 Nov;61(11):699-705. doi: 10.1016/j.ejmg.2017.12.007. Epub 2017 Dec 16. Eur J Med Genet. 2018. PMID: 29253590 Review.
Publication types
MeSH terms
Substances
LinkOut - more resources
Full Text Sources
Other Literature Sources
Medical
