A 22-Year Follow-up Study of Long-term Cardiac Outcome and Predictors of Survival in Friedreich Ataxia

Francoise Pousset, MD; Lise Legrand, MD; Marie-Lorraine Monin, MD; Claire Ewenczyk, MD; Perrine Charles, MD, PhD; Michel Komajda, MD; Alexis Brice, MD; Massimo Pandolfo, MD; Richard Isnard, MD, PhD; Sophie Tezenas du Montcel, MD, PhD; Alexandra Durr, MD, PhD. JAMA Neurol. Published online September 28, 2015. doi:10.1001/jamaneurol.2015.1855

Survival in FRDA is determined by cardiac complications, which are dependent on the mutation. The patients with the worse cardiac evolution had longer GAA repeats. Neurological impairment was not predictive of cardiac change over time. Patients with progressive decline of the left ventricular ejection fraction had a worse prognosis. This finding demonstrates that cardiac follow-up is important in FRDA to identify individuals at risk for further cardiac complications.

Monitoring Cardiac Function During Idebenone Therapy in Friedreich's Ataxia

Di Salvo Giovanni, Pergola Valeria, Fadel Bahaa and Al Fayyadh Majid, Current Pharmaceutical Design 21-4, Page: [479 - 483] DOI: 10.2174/138161282104141204142917

This drug has the potential to preserve and even improve mitochondrial function.Studies on Idebenone treatment showed rather conflicting results on FA cardiomyopathy. The present article reviews the clinical features of FA cardiomyopathy, imaging techniques used to diagnose, follow and monitor therapy which aimed to revert FA cardiomyopathy.