Low-dose idebenone treatment in Friedreich’s ataxia with and without cardiac hypertrophy

• Published in: Journal of neurology Vol. 256; no. 9; pp. 1434 - 1437
• Main Authors: Rinaldi, C., Tucci, T., Maione, S., Giunta, A., De Michele, G., Filla, A.
• Format: Journal Article
• Language: English
• Published: Heidelberg D. Steinkopff-Verlag 01.09.2009; Springer; Springer Nature B.V
• Subjects: Adult; Analysis of Variance; Antioxidants; Antioxidants - therapeutic use; Ataxia; Biological and medical sciences; Blood pressure; Cardiomyopathy; Cohort Studies; Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases; Echocardiography; Enzymes; Female; Follow-Up Studies; Friedreich Ataxia - complications; Friedreich Ataxia - drug therapy; Friedreich Ataxia - pathology; Heart - drug effects; Heart Septum - diagnostic imaging; Heart Septum - drug effects; Heart Septum - pathology; Humans; Hypertrophy, Left Ventricular - complications; Hypertrophy, Left Ventricular - drug therapy; Hypertrophy, Left Ventricular - pathology; Kinases; Male; Medical sciences; Medicine; Medicine & Public Health; Myocardium - pathology; Neurology; Neuroradiology; Neurosciences; Original Communication; Retrospective Studies; Severity of Illness Index; Ubiquinone - analogs & derivatives; Ubiquinone - therapeutic use; Ultrasonic imaging; Hypertrophic cardiomyopathy; Friedreich’s ataxia; Idebenone; Antioxidant therapy; Nervous system diseases; Low dose; Cardiovascular disease; Antioxidant; Myocardial disease; Genetic disease; Cerebral disorder; Friedreich's ataxia; Treatment; Heart disease; Central nervous system disease; Degenerative disease; Friedreich ataxia; Spinal cord disease
• ISSN: 0340-5354; 1432-1459
• DOI: 10.1007/s00415-009-5130-6

Left ventricular hypertrophy (LVH) is a frequent finding in Friedreich’s ataxia (FRDA). In previous studies treatment with idebenone, a synthetic analogue of coenzyme Q10, has been associated with a substantial decrease in myocardial hypertrophy, despite great variability in cardiac responsiveness among patients. Here we present the results of a retrospective analysis of a cohort of 35 patients (20 with LVH, 15 without LVH) with confirmed molecular diagnosis of FRDA, treated with idebenone 5 mg/kg/day for up to five years. At the end of the study, we found an increase of interventricular septum and posterior wall thickness in the group without LVH before treatment and no change in the group with LVH before treatment. The neurological picture of the disease significantly deteriorated with time in both groups.