HFE p.H63D polymorphism does not influence ALS phenotype and survival

Neurobiology of Aging - Tập 36 - Trang 2906.e7-2906.e11 - 2015
Adriano Chiò1,2, Gabriele Mora3, Mario Sabatelli4, Claudia Caponnetto5, Christian Lunetta6, Bryan J. Traynor7, Janel O. Johnson7,8, Mike A. Nalls9, Andrea Calvo1,2, Cristina Moglia1, Giuseppe Borghero10, Maria Rosaria Monsurrò11, Vincenzo La Bella12, Paolo Volanti13, Isabella Simone14, Fabrizio Salvi15, Francesco O. Logullo16, Riva Nilo17, Fabio Giannini18, Jessica Mandrioli19
1ALS Center, ‘Rita Levi Montalcini’ Department of Neuroscience, Neurology II, University of Torino, Torino, Italy
2Azienda Ospedaliero-Universitaria Città della Salute e della Scienza, Torino, Italy
3Department of Neurological Rehabilitation, Fondazione Salvatore Maugeri, IRCCS, Istituto Scientifico di Milano, Milan, Italy
4Neurological Institute, Catholic University and I.C.O.M.M. Association for ALS Research, Rome, Italy
5Department of Neurosciences, Ophthalmology, Genetics, Rehabilitation and Child Health, IRCCS Azienda Ospedaliero-Universitaria San Martino IST, University of Genoa, Genoa, Italy
6NEuroMuscular Omnicenter, Serena Onlus Foundation, Milan, Italy
7Neuromuscular Diseases Research Unit, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA
8Department of Neurology, Neurological Institute, Neuromuscular Center, Cleveland Clinic, Cleveland, OH, USA
9Molecular Genetics Section, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA
10Department of Neurology, Azienda Universitario Ospedaliera di Cagliari and University of Cagliari, Cagliari, Italy
11Department of Neurological Sciences, Second University of Naples, Naples, Italy
12ALS Clinical Research Center, Department of Experimental Biomedicine and Clinical Neuroscience, University of Palermo, Palermo, Italy
13Neurorehabilitation Unit/ALS Center, Salvatore Maugeri Foundation, IRCCS, Scientific Institute of Mistretta, Mistretta, Italy
14Department of Basic Medical Sciences, Neurosciences and Sense Organs, University of Bari, Bari, Italy
15Center for Diagnosis and Cure of Rare Diseases, Department of Neurology, IRCCS Institute of Neurological Sciences, Bologna, Italy
16Neurological Clinic, Marche Polytechnic University, Ancona, Italy
17Department of Neurology and Institute of Experimental Neurology (INSPE), IRCCS San Raffaele Scientific Institute, Milan, Italy
18Department of Medical, Surgical and Neurological Sciences, University of Siena, Siena, Italy
19Department of Neuroscience, S. Agostino- Estense Hospital, University of Modena and Reggio Emilia, Modena, Italy

Tài liệu tham khảo

Ahmeti, 2013, Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1, Neurobiol. Aging, 34, 357.e7, 10.1016/j.neurobiolaging.2012.07.017 Blauw, 2012, NIPA1 polyalanine repeat expansions are associated with amyotrophic lateral sclerosis, Hum. Mol. Genet., 21, 2497, 10.1093/hmg/dds064 Chiò, 2012, Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72, Brain, 135, 784, 10.1093/brain/awr366 Chiò, 2014, ATXN2 polyQ intermediate repeats are a modifier of ALS survival, Neurology, 84, 251, 10.1212/WNL.0000000000001159 Chiò, 2013, UNC13A influences survival in Italian amyotrophic lateral sclerosis patients: a population-based study, Neurobiol. Aging, 34, 357.e1, 10.1016/j.neurobiolaging.2012.07.016 Diekstra, 2012, UNC13A is a modifier of survival in amyotrophic lateral sclerosis, Neurobiol. Aging, 33, 630.e3, 10.1016/j.neurobiolaging.2011.10.029 Finsterer, 2014, Recent progress in the genetics of motor neuron disease, Eur. J. Med. Genet., 57, 103, 10.1016/j.ejmg.2014.01.002 Goodall, 2005, Association of the H63D polymorphism in the hemochromatosis gene with sporadic ALS, Neurology, 65, 934, 10.1212/01.wnl.0000176032.94434.d4 Hanson, 2001, HFE gene and hereditary hemochromatosis: a HuGE review, Am. J. Epidemiol., 154, 193, 10.1093/aje/154.3.193 Li, 2014, Mutations in the HFE gene and sporadic amyotrophic lateral sclerosis risk: a meta-analysis of observational studies, Braz. J. Med. Biol. Res., 47, 215, 10.1590/1414-431X20133296 Nalls, 2015, NeuroX, a fast and efficient genotyping platform for investigation of neurodegenerative diseases, Neurobiol. Aging, 36, 1605.e7, 10.1016/j.neurobiolaging.2014.07.028 Nandar, 2014, H63D HFE genotype accelerates disease progression in animal models of amyotrophic lateral sclerosis, Biochim. Biophys. Acta, 1842, 2413, 10.1016/j.bbadis.2014.09.016 Praline, 2012, Study of the HFE gene common polymorphisms in French patients with sporadic amyotrophic lateral sclerosis, J. Neurol. Sci., 15, 58, 10.1016/j.jns.2012.02.029 Renton, 2014, State of play in amyotrophic lateral sclerosis genetics, Nat. Neurosci., 17, 17, 10.1038/nn.3584 Restagno, 2007, HFE H63D polymorphism is increased in patients with amyotrophic lateral sclerosis of Italian origin, J. Neurol. Neurosurg. Psychiatry, 78, 327, 10.1136/jnnp.2006.092338 Su, 2013, H63D HFE polymorphisms are associated with increased disease duration and decreased muscle superoxide dismutase-1 expression in amyotrophic lateral sclerosis patients, Muscle Nerve, 48, 242, 10.1002/mus.23740 Sutedja, 2007, The association between H63D mutations in HFE and amyotrophic lateral sclerosis in a Dutch population, Arch. Neurol., 64, 63, 10.1001/archneur.64.1.63 van Rheenen, 2013, H63D polymorphism in HFE is not associated with amyotrophic lateral sclerosis, Neurobiol. Aging, 34, 1517.e5, 10.1016/j.neurobiolaging.2012.07.020
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Neurobiology of Aging

Tập 36

2906.e7-2906.e11

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