genetic overlap between apparently sporadic motor neuron diseases基因重叠显然零星的运动神经元疾病.pdfVIP

Genetic Overlap between Apparently Sporadic Motor Neuron Diseases 1 1 1 1 2 Marka van Blitterswijk *, Lotte Vlam , Michael A. van Es , W-Ludo van der Pol , Eric A. M. Hennekam , 2 3 4 4 1. Dennis Dooijes , Helenius J. Schelhaas , Anneke J. van der Kooi , Marianne de Visser , Jan H. Veldink , Leonard H. van den Berg1. 1 Department of Neurology, Rudolf Magnus Institute of Neuroscience, University Medical Center Utrecht, Utrecht, The Netherlands, 2 Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands, 3 Department of Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands, 4 Department of Neurology, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands Abstract Progressive muscular atrophy (PMA) and amyotrophic lateral sclerosis (ALS) are devastating motor neuron diseases (MNDs), which result in muscle weakness and/or spasticity. We compared mutation frequencies in genes known to be associated with MNDs between patients with apparently sporadic PMA and ALS. A total of 261 patients with adult-onset sporadic PMA, patients with sporadic ALS, and control subjects of Dutch descent were obtained at national referral centers for neuromuscular diseases in The Netherlands. Sanger sequencing was used to screen these subjects for mutations in the coding regions of superoxide dismutase-1 (SOD1), angiogenin (ANG), fused in sarcoma/translated in liposarcoma (FUS/TLS),