P14. Sodium magnetic resonance imaging in Friedreich ataxia – A preliminary study

Friedreich ataxia (FRDA) is the most common autosomal recessive inherited ataxia, mainly caused by a GAA trinucleotide repeat expansion in the FRDA gene encoding the protein frataxin (Bradley et al., 2000). Magnetic resonance imaging (MRI) has successfully been used to detect abnormalities in the brainstem, cerebellum and cortex in FRDA (Franca et al., 2009; Dogan et al., 2016). Here, we used in vivo sodium MRI to investigate cerebral metabolic changes in FRDA (Reetz et al., 2012).
Source: Clinical Neurophysiology - Category: Neuroscience Authors: Source Type: research