PubMed | Tel Aviv University, Innsbruck Medical University, Tel Aviv Sourasky Medical Center Tel Aviv, Montreal Neurological Institute and 9 more.
Type: Journal Article | Journal: Annals of clinical and translational neurology | Year: 2015
Rapid eye movement sleep behavior disorder and GBA mutations are both associated with Parkinsons disease. The GBA gene was sequenced in idiopathic rapid eye movement sleep behavior disorder patients (n=265), and compared to controls (n=2240). Rapid eye movement sleep behavior disorder questionnaire was performed in an independent Parkinsons disease cohort (n=120). GBA mutations carriers had an OR of 6.24 (10.2% in patients vs. 1.8% in controls, P<0.0001) for rapid eye movement sleep behavior disorder, and among Parkinsons disease patients, the OR for mutation carriers to have probable rapid eye movement sleep behavior disorder was 3.13 (P=0.039). These results demonstrate that rapid eye movement sleep behavior disorder is associated with GBA mutations, and that combining genetic and prodromal data may assist in identifying individuals susceptible to Parkinsons disease.
Cohen J.T.,Tel Aviv University |
Cohen J.T.,Tel Aviv Sourasky Medical Center Tel Aviv |
Manor Y.,Tel Aviv University
Laryngoscope | Year: 2011
Objectives: To assess the accuracy of the swallowing disturbance questionnaire (SDQ) that had originally been designed and validated for detecting swallowing problems among patients with Parkinson's disease and was now applied for identifying patients with dysphagia associated with various other etiologies. Study Design: Prospective. Methods: One-hundred patients with the complaint of swallowing disturbances who underwent a full swallowing survey at the Tel-Aviv Voice and Swallowing Disorder Clinic participated. They all filled in the SDQ. The collected data included patient characteristics, medical history, and the results of an oromotor examination and a fiberoptic endoscopic evaluation of swallowing (FEES). The SDQ results were compared to the FEES and oromotor examination findings. Results: The responses to the questions in the SDQ were highly correlated with the findings of the oral part of the oromotor examination (85.71% sensitivity, 87.6% specificity). Items on the laryngopharyngeal phase reliably assessed dysphagia symptoms in correlation to the FEES examination (67.3% sensitivity, 76.7% specificity). The total SDQ score correlated with the total oromotor and the FEES scores (79.7% sensitivity, 73% specificity). Conclusions: The SDQ is a sensitive and accurate tool for identifying patients with true swallowing disturbances arising from different etiologies and for indicating the need for more in-depth instrumental swallowing evaluations. Copyright © 2011 The American Laryngological, Rhinological, and Otological Society, Inc.