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Columbia University Medical Center/NY-Presbyterian experts at AAN
Date:3/18/2013

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.

For additional information, or to arrange an interview, please contact Karin Eskenazi at 212-342-0508 or ket2116@columbia.edu, or Christina Stolfo at 212-305-5587 or chs9135@nyp.org

ORAL PRESENTATIONS

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

Speaker:Stanley Fahn

Background/Significance: Dr. Fahn will review the clinical, pathological, biochemical, imaging, and genetic background of Parkinson disease, as an
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Contact: Karin Eskenazi
ket2116@columbia.edu
212-342-0508
Columbia University Medical Center
Source:Eurekalert

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