Stem Cell Transplantation in Friedreich Ataxia: Cure for Leukemia but No Effect on Neurological Progression

Friedreich Ataxia (FRDA) is a neurodegenerative disorder of children and young adults associated with cardiomyopathy and other systemic complications. We report a 10-year-old girl who presented simultaneously with Acute Myelogenous Leukemia and FRDA who was successfully treated for her leukemia with allogeneic hematopoietic stem cell transplant. She experienced no major complications. After the transplant, her neurologic disease progressed similarly to other patients, but her blood frataxin levels returned to normal and cardiac hypertrophy decreased. This shows that FRDA patients can be treated with bone marrow transplantation, but such treatment alone has no direct effect on progression of neurologic disease.