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BMC Neurology

, 11:145



BackgroundMitochondrial dysfunction due to respiratory chain impairment is a key feature in pathogenesis of Friedreich ataxia. Friedreich ataxia affects the nervous system, heart and pancreas.

MethodsWe assessed hepatic mitochondrial function by C-methionine-breath-test in 16 Friedreich ataxia patients and matched healthy controls.

ResultsPatients exhaled significantly smaller amounts of CO2 over 90 minutes. Maximal exhaled percentage dose of CO2 recovery was reduced compared to controls.

ConclusionsC-methionine-breath-test indicates subclinical hepatic mitochondrial dysfunction in Friedreich ataxia but did not correlate with GAA repeat lengths, disease duration or disease severity.

KeywordsC-methionine breath test Friedreich Ataxia neurodegeneration Electronic supplementary materialThe online version of this article doi:10.1186-1471-2377-11-145 contains supplementary material, which is available to authorized users.

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Autor: Sven H Stüwe - Oliver Goetze - Larissa Arning - Matthias Banasch - Wolfgang E Schmidt - Ludger Schöls - Carsten Saft

Fuente: https://link.springer.com/

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