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

wy body pathology. The researchers found that LRRK2 can interfere with CMA in neurons and that this interference appears to cause α-synuclein accumulation. This mechanism may underlie the α-synuclein pathology in LRRK2 PD cases.

Session Information: S13.003, Parkinson's Disease Genetics and Pathogenesis

Presentation Time: Tuesday March 19, 3:30 pm

Session Information: IN2-1.001, Integrated Neuroscience Session, Poster Rounds: New Insights into Molecular Mechanisms in Parkinson's Disease

Presentation Time: Sunday, March 17, 4:30 pm:30 pm

Parkinson Disease Phenotype in Ashkenazi Jews with and without LRRK2 Mutations

Authors: Roy Alcalay, Anat Mirelman, Rachel Saunders-Pullman, Mingxin Tang, Helen Mejia-Santana, Deborah Raymond, Ernerst Roos, Martha Orbe-Reilly, Llency Rosado, Tanya Gurevich, Ziv Gan-Or, Maayan Zelis, Avi Orr-Urtreger, Laurie Ozelius, Lorraine Clark, Nir Giladi, Susan Bressman, Karen Marder

Background/Significance: The phenotype of Parkinson's disease (PD) patients with LRRK2 mutations is often similar to that of non-carriers. The purpose of this study was to compare PD phenotype of LRRK2 carriers and non-carriers in a large Ashkenazi Jewish PD cohort. The researchers found that LRRK2 PD in Ashkenazi Jews is characterized by earlier age-at-onset, frequent lower extremity involvement at onset, persistent response to levodopa, and dyskinesia.

Session Information: S13.004, Parkinson's Disease: Genetics and Pathogenesis

Presentation Time: Tuesday, March 19, 3:45 pm

Session Information: IN2-2.001, Integrated Neuroscience Session: New Insights into Molecular Mechanisms in Parkinson's Disease, Data Blitz Session

Presentation Time: Sunday, March 17, 5:30 pm:00 pm

Results of an Open-Label, Escalating Dose Study To Assess the Safety, Tolerability, and Dose Range Finding of a Single Intrathecal Dose of ISIS-SMNRX in Patients with Spinal Muscular Atrophy<
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Contact: Karin Eskenazi
ket2116@columbia.edu
212-342-0508
Columbia University Medical Center
Source:Eurekalert

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