The following research from Columbia University Medical Center and NewYork-Presbyterian Hospital is being presented at the 65th annual meeting of the American Academy of Neurology (AAN), March 16-23, 2013, in San Diego.
Deoxypyrimidine Monophosphates Treatment for Thymidine Kinase 2 Deficiency
Authors: Caterina Garone, Beatriz Garcia-Diaz, Valentina Emmanuele, Saba Tadesse, Orhan Akman, Kurenai Tanji, Catarina Quinzii, Michio Hirano
Background/Significance: Autosomal recessive thymidine kinase 2 (TK2) mutations have been associated with severe depletion of mitochondrial DNA (mtDNA) and devastating neuromuscular diseases in infants and children, and with mtDNA multiple deletions and progressive external ophtalmoplegia in adults. Only supportive treatments are available for TK2 deficiency. Using a mouse model of TK2 deficiency, with a phenotype similar to human infantile encephalomyopathy, the researchers demonstrated that oral supplementation with deoxypyrimidine monophosphates is an effective and safe treatment for this disorder. The treatment can potentially be applied to humans.
Session Information: IN1-2.003, Integrated Neuroscience Session: Pediatric Neuromuscular Disease, Data Blitz Session
Presentation Time: Sunday, March 17, 11:40 am
Session Information: S05.005, Muscular Dystrophy and Inherited Myopathy
Presentation Time: Tuesday, March 19, 2:00 pm
Clinical Overview of Parkinson Pathophysiology
Background/Significance: Dr. Fahn will review the clinical, pathological, biochemical, imaging, and genetic background of Parkinson disease, as an
|Contact: Karin Eskenazi|
Columbia University Medical Center