Friedreich's ataxia other diagnostic studies
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Mohamadmostafa Jahansouz M.D.[2]
Overview
X-ray fluorescence (HDXRF) may be helpful in the diagnosis of Friedreich's ataxia. Findings on an HDXRF suggestive of Friedreich's ataxia include: Clusters of iron-rich hot-spots with similar mass fractions and significant decrease in zinc concentration in the cytoplasm of fibroblasts of patients with friedreich's ataxia.
Other diagnostic studies
X-ray fluorescence (HDXRF) may be helpful in the diagnosis of Friedreich's ataxia. Findings on an HDXRF suggestive of Friedreich's ataxia include:
- Clusters of iron-rich hot-spots with similar mass fractions in the cytoplasm of fibroblasts
- Significant decrease in zinc concentration in the cytoplasm of fibroblasts