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

type of physical therapy services received by SMA patients. One finding was that 36 percent of SNA patients receive no therapy services, although such services are the standard of care. The authors plan to continue to collect longitudinal data to better understand the impact of physical therapy services on the natural history of SMA. This data could contribute to standardization of clinical trial planning.

Session Information: P03.050, Anterior Horn: Spinal Muscular Atrophy and Other Motor Neuropathies

Presentation Time: Tuesday, March 19, 2:00 pm:30 pm

Factors Associated with Phobic and Obsessive Compulsive Symptoms in Epilepsy

Authors: Heidi Munger Clary, Marla Hamberger

Background/Significance: Although generalized anxiety symptoms are a major determinant of quality of life in epilepsy, little is known about other anxiety types, including phobic and obsessive compulsive symptoms. A study of 761 adult epilepsy patients with self-reported phobic and obsessive compulsive symptoms found that epilepsy patients who are nonwhite, have lower education, and receive anti-epileptic drug polytherapy may be at increased risk for phobic symptoms.

Session Information: P03.136, Epilepsy: Comorbidities and Cardiovascular Risk

Presentation Time: Tuesday, March 19, 2:00 pm:30 pm

Infantile Mitochondrial Encephalomyopathy Due to a Novel Mutation in ACAD9

Authors: Caterina Garone, Maria Alice Donati, Michele Sacchini, Sarah Calvo, Beatriz Garcia-Diaz, Vamsi Mootha, Salvatore DiMauro

Background/Significance: The aim of this study was to identify causative gene variants of early-onset complex I deficiency, the most common respiratory chain defect with early-onset fatal encephalomyopathy. Although many molecular defects have been described both in structural subunits and in assembly factors, the genetic diagnosis remains unknown in a large cohort of patients. Testing revealed a new homozygous m
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Contact: Karin Eskenazi
ket2116@columbia.edu
212-342-0508
Columbia University Medical Center
Source:Eurekalert

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