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Published on: May 7, 2012
Umbilical cord blood transplantation for juvenile metachromatic leukodystrophy
Tyler Mark Pierson1, Carsten G Bonnemann, Richard S Finkel
1Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 20892-3705, USA. piersonty@ninds.nih.gov
Abstract:
Three siblings with metachromatic leukodystrophy underwent umbilical cord blood transplantation at different stages of disease. Neuroimaging, nerve conduction studies, neurological examinations, and neuropsychological examinations were used to measure outcome over 2 years. After transplant, the oldest sibling experienced disease progression. His two siblings had near or total resolution of signal abnormalities on neuroimaging. Their neuropsychological testing remained stable, and nerve conduction studies have shown improvement. These results indicate pretransplantation neurological examinations may be the most significant predictor of outcome after transplant. To our knowledge, this report is the first to document neurological outcome of metachromatic leukodystrophy treated by umbilical cord blood transplantation.
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