Roger E. Peverill, International Journal of Cardiology, Available online 21 September 2015, ISSN 0167-5273, doi: 10.1016/j.ijcard.2015.09.047.
The combination of ECG, LGE and hsTnT with echocardiographic findings in the evaluation of these individuals is of considerable interest as it has suggested that absence of cardiac involvement in FRDA is uncommon. Whether there is any clinical significance of this finding is less certain, as it is not known whether those individuals with minor cardiac changes will ever develop cardiac symptoms or progressive cardiac disease. While the possibility of a staging system for cardiac involvement in FRDA remains of interest, the recent proposal may be considered premature given the limitations of our knowledge about the natural history of cardiac disease in FRDA.
Paper review:: The Cardiomyopathy in Friedreich’s Ataxia – New Biomarker for Staging Cardiac Involvement. Frank Weidemann, Dan Liu, Kai Hu, Cristiane Florescu, Markus Niemann, Sebastian Herrmann, Bastian Kramer, Stephan Klebe, Kathrin Doppler, Nurcan Üçeyler, Christian Oliver Ritter, Georg Ertl, Stefan Störk, International Journal of Cardiology, Available online 15 May 2015, ISSN 0167-5273, doi:10.1016/j.ijcard.2015.05.074.
Tuesday, September 22, 2015
Delayed-onset Friedreich's ataxia revisited
Lecocq, C., Charles, P., Azulay, J.-P., Meissner, W., Rai, M., N'Guyen, K., Péréon, Y., Fabre, N., Robin, E., Courtois, S., Guyant-Maréchal, L., Zagnoli, F., Rudolf, G., Renaud, M., Sévin-Allouet, M., Lesne, F., Alaerts, N., Goizet, C., Calvas, P., Eusebio, A., Guissart, C., Derkinderen, P., Tison, F., Brice, A., Koenig, M., Pandolfo, M., Tranchant, C., Dürr, A. and Anheim, M. (2015). Mov. Disord.. doi: 10.1002/mds.26382
Typical- and delayed-onset Friedreich's ataxia are different and Friedreich's ataxia is heterogeneous. Late-onset Friedreich's ataxia and very-late-onset Friedreich's ataxia appear to belong to the same clinical and molecular continuum and should be considered together as “delayed-onset Friedreich's ataxia.”
Typical- and delayed-onset Friedreich's ataxia are different and Friedreich's ataxia is heterogeneous. Late-onset Friedreich's ataxia and very-late-onset Friedreich's ataxia appear to belong to the same clinical and molecular continuum and should be considered together as “delayed-onset Friedreich's ataxia.”
Subscribe to:
Posts (Atom)
