Alpha-synuclein gene duplication: Marked intrafamilial variability in two novel pedigrees
نویسندگان
چکیده
منابع مشابه
{alpha}-Synuclein gene duplication impairs reward learning.
alpha-Synuclein (SNCA) plays an important role in the regulation of dopaminergic neurotransmission and neurodegeneration in Parkinson disease. We investigated reward and punishment learning in asymptomatic carriers of a rare SNCA gene duplication who were healthy siblings of patients with Parkinson disease. Results revealed that healthy SNCA duplication carriers displayed impaired reward and in...
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Background: Arrhythmogenic ventricular cardiomyopathy (AVC) is an inherited cardiac disorder affecting 1 in 1000 individuals worldwide. The mean diagnosed age of disease is 31 years. In this article, an Iranian family reported that they were affected by ARVC due to a novel PKP2 mutation. Methods: Clinical evaluations, 12-lead ECG, CMR, and signal-averaged ECG were performed. After...
متن کاملα-Synuclein gene duplication impairs reward learning
Department of Physiology, Faculty of Medicine, University of Szeged, 6720, Szeged, Hungary; National Psychiatry Center, Semmelweis University, 1083 Budapest, Hungary; Center for Molecular and Behavioral Neuroscience, Rutgers University, Newark, NJ 07102; Stress and Motivated Behavior Institute, Veterans Affairs Medical Center, New Jersey Health Care System, East Orange, NJ 07018; and Department...
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ژورنال
عنوان ژورنال: Movement Disorders
سال: 2013
ISSN: 0885-3185
DOI: 10.1002/mds.25518