The ACMSD gene, involved in tryptophan metabolism, is mutated in a family with cortical myoclonus, epilepsy, and parkins
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ORIGINAL ARTICLE
The ACMSD gene, involved in tryptophan metabolism, is mutated in a family with cortical myoclonus, epilepsy, and parkinsonism Jose Felix Martí-Massó & Alberto Bergareche & Vladimir Makarov & Javier Ruiz-Martinez & Ana Gorostidi & Adolfo López de Munain & Juan Jose Poza & Pasquale Striano & Joseph D. Buxbaum & Coro Paisán-Ruiz
Received: 13 May 2013 / Revised: 2 July 2013 / Accepted: 29 July 2013 / Published online: 20 August 2013 # Springer-Verlag Berlin Heidelberg 2013
Abstract Familial cortical myoclonic tremor and epilepsy is a phenotypically and genetically heterogeneous autosomal dominant disorder characterized by the presence of cortical myoclonic tremor and epilepsy that is often accompanied by additional neurological features. Despite the numerous familial studies performed and the number of loci identified, there is no gene associated with this syndrome. It is expected that through the
application of novel genomic technologies, such as whole exome sequencing and whole genome sequencing, a substantial number of novel genes will come to light in the coming years. In this study, we describe the identification of two diseasesegregating mutations in a large family featuring cortical myoclonic tremor with epilepsy and parkinsonism. Due to the previous association of ACMSD deficiency with the development of epileptic seizures, we concluded that the identified
Electronic supplementary material The online version of this article (doi:10.1007/s00109-013-1075-4) contains supplementary material, which is available to authorized users. J. F. Martí-Massó : A. Bergareche : J. Ruiz-Martinez : A. Gorostidi : A. L. de Munain : J. J. Poza Biodonostia Research Institute, Neurosciences area, University of the Basque Country, EHU-UPV, San Sebastian, Gipuzkoa, Spain J. F. Martí-Massó : A. Bergareche : J. Ruiz-Martinez : A. Gorostidi : A. L. de Munain : J. J. Poza Hospital Universitario Donostia, Department of Neurology, Movement Disorders Unit, San Sebastian, Gipuzkoa, Spain J. F. Martí-Massó : A. Bergareche : J. Ruiz-Martinez : A. Gorostidi : A. L. de Munain : J. J. Poza Centro de investigación biomédica en Red para enfermedades Neurodegenerativas (CIBERNED), Carlos III Health Institute, Madrid, Spain J. F. Martí-Massó : A. L. de Munain Department of Neurosciences, University of the Basque Country, EHU-UPV, San Sebastian, Gipuzkoa, Spain V. Makarov Department of Biostatistics, Columbia University, Mailman School of Public Health, 722 west 168 St, New York, NY 10032, USA P. Striano Pediatric Neurology and Muscular Diseases Unit, Department of Neurosciences-DINOGMI, Gaslini Institute, Genoa, Italy
J. D. Buxbaum : C. Paisán-Ruiz Department of Psychiatry, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, NY 10029, USA J. D. Buxbaum : C. Paisán-Ruiz Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, NY 10029, USA J. D. Buxbaum Department of Neurosciences, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy
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