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

y from a heterozygote PARKIN carrier with PD has been described, and no autopsy from a carrier of a heterozygote deletion has been reported in the English literature. The pathogenicity of heterozygous PARKIN mutations remains unclear but some evidence supports causality. The patient was found to have a PARKIN exon 3-4 heterozygous deletion with Lewy body pathology and late-onset dementia. The deletion was unlikely to be an incidental finding, considering family history and age at onset.

Session Information: P05.055, Movement Disorders: Parkinson's Disease Genetics

Presentation Time: Wednesday, March 20, 2013 2:00 pm:00pm

Brainstem Venous Congestion Due to Dural Arterio-Venous Fistula Mimicking a Brainstem Tumor

Authors: Michelle Bell, Andrew Lassman, Fabio Iwamoto

Background/Significance: Dural brainstem arterio-venous fistulas are exceedingly rare and not readily apparent with routine imaging studies. These vascular malformations, therefore, pose a formidable diagnostic challenge. A case study of a 54-year-old man who presented to the emergency room with subacute headache and vertigo illustrates the importance of considering these malformations in the differential diagnosis of steroid-responsive brainstem expansile lesions.

Session Information: P06.144, Neuro-Oncology: Imaging

Presentation Time: Thursday, March 21, 7:30 am:00 pm

Clinical Characteristics of Pathologically Confirmed Parkinson Disease Patients with Freezing of Gait

Authors: Tuhin Virmani, Jean Paul Vonsattel, Stanley Fahn

Background/Significance: This study aimed to evaluate the characteristics of patients with Parkinson disease (PD) with or without freezing of gait (FOG) with autopsy-proven presence of Lewy bodies. The researchers found that FOG may be more common in PD with autopsy-proven PD than previously reported. Early FOG was associated with earlier onset of postural instability, memory impairment, a
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Contact: Karin Eskenazi
ket2116@columbia.edu
212-342-0508
Columbia University Medical Center
Source:Eurekalert

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