Friedreich's ataxia other diagnostic studies

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:^[1]

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

References

↑ De Samber B, Meul E, Laforce B, De Paepe B, Smet J, De Bruyne M, De Rycke R, Bohic S, Cloetens P, Van Coster R, Vandenabeele P, Vanden Berghe T (2018). “Nanoscopic X-ray fluorescence imaging and quantification of intracellular key-elements in cryofrozen Friedreich’s ataxia fibroblasts”. PLoS ONE. 13 (1): e0190495. doi:10.1371/journal.pone.0190495. PMC 5771581. PMID 29342155.

[pmid29342155-1] De Samber B, Meul E, Laforce B, De Paepe B, Smet J, De Bruyne M, De Rycke R, Bohic S, Cloetens P, Van Coster R, Vandenabeele P, Vanden Berghe T (2018). “Nanoscopic X-ray fluorescence imaging and quantification of intracellular key-elements in cryofrozen Friedreich’s ataxia fibroblasts”. PLoS ONE. 13 (1): e0190495. doi:10.1371/journal.pone.0190495. PMC 5771581. PMID 29342155.

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