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Proof of progression over time : finally fulminant brain, muscle, and liver affection in Alpers syndrome associated with the A467T POLG1 mutation

Boes, M. and Bauer, J. and Urbach, H. and Elger, C. E. and Frank, S. and Baron, M. and Zsurka, G. and Kunz, W. S. and Kornblum, C.. (2009) Proof of progression over time : finally fulminant brain, muscle, and liver affection in Alpers syndrome associated with the A467T POLG1 mutation. Seizure : European journal of epilepsy, Vol. 18. pp. 232-234.

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Official URL: http://edoc.unibas.ch/dok/A6004341

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Abstract

This case concerns a 17-year-old boy, who was given the diagnosis of Alpers syndrome only postmortem when a homozygous 1399G--<A (A467T) mutation was found in the linker-region of POLG1. Serial muscle and liver biopsies as well as brain MRI scans in our patient ranging from early childhood to postmortem analyses showed that (i) routine diagnostic procedures can be normal in the early stage of the disorder and that (ii) central nervous system and further organ affection may only develop in the time course of the disease. Consecutive diagnostic examinations clearly reflected the devastating clinical course and cerebral deterioration evolving over time in Alpers syndrome.
Faculties and Departments:03 Faculty of Medicine > Bereich Querschnittsfächer (Klinik) > Pathologie USB > Neuro- und Muskelpathologie (Frank)
03 Faculty of Medicine > Departement Klinische Forschung > Bereich Querschnittsfächer (Klinik) > Pathologie USB > Neuro- und Muskelpathologie (Frank)
UniBasel Contributors:Frank, Stephan
Item Type:Article, refereed
Article Subtype:Research Article
Bibsysno:Link to catalogue
Publisher:Elsevier
ISSN:1059-1311
Note:Publication type according to Uni Basel Research Database: Journal article
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Last Modified:01 Feb 2013 08:46
Deposited On:01 Feb 2013 08:45

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