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The chromosome 9 ALS and FTD locus is probably derived from a single founder |
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| Authors: | Kin MokBryan J. Traynor,Jennifer SchymickPentti J. Tienari,Hannu Laaksovirta,Terhi PeuralinnaLiisa Myllykangas,Adriano Chiò Aleksey Shatunov,Bradley F. BoeveAdam L. Boxer,Mariely DeJesus-HernandezIan R. Mackenzie,Adrian WaiteNigel Williams,Huw R. MorrisJavier Simó n-Sá nchez,John C. van Swieten,Peter HeutinkGabriella Restagno,Gabriele MoraKaren E. Morrison,Pamela J. ShawPamela Sara Rollinson,Ammar Al-ChalabiRosa Rademakers,Stuart Pickering-BrownRichard W. Orrell,Michael A. NallsJohn Hardy |
| Affiliation: | a Reta Lila Weston Research Laboratories, Departments of Molecular Neuroscience and of Clinical Neuroscience, UCL Institute of Neurology, Queen Square, London, UK b Molecular Genetics Section and Neuromuscular Diseases Research Group, Laboratory of Neurogenetics, National Institute on Aging, NIH, Bethesda, MD, USA c Helsinki University Central Hospital, Department of Neurology, Molecular Neurology Research Program, Biomedicum, University of Helsinki, Helsinki, Finland d Department of Pathology, Haartman Institute, University of Helsinki and HUSLAB, and Folkhalsan Institute of Genetics, Helsinki, Finland e Department of Neuroscience, University of Turin, and Azienda Ospedaliera Universitaria San Giovanni Battista, Turin, Italy f Medical Research Council Centre for Neurodegeneration Research, King's College London, Institute of Psychiatry, London, UK g Department of Neurology, Mayo Clinic, Rochester, MN, USA h Memory and Aging Center, Department of Neurology, University of California, San Francisco, San Francisco, CA, USA i Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA j Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, BC, Canada k Medical Research Council Centre for Neuropsychiatric Genetics and Genomics, Cardiff University School of Medicine, Cardiff, UK l Department of Clinical Genetics, Section of Medical Genomics, VU University Medical Centre, Amsterdam, The Netherlands m Department of Neurology, Erasmus Medical Center, Rotterdam, The Netherlands n Molecular Genetics Laboratory, Azienda Ospedaliera OIRM-Sant'Anna, Turin, Italy o Fondazione Salvatore Mangeri, IRCCS Scientific Institute of Milan, Milan, Italy p School of Clinical and Experimental Medicine, University of Birmingham, and Queen Elizabeth Hospital, University Hospitals Birmingham NHS Foundation Trust, Birmingham, UK q The Sheffield Institute for Translational Neuroscience (SITraN, Department of Neuroscience, University of Sheffield, Sheffield, UK r Neurodegeneration and Mental Health Research Group, Faculty of Human and Medical Sciences, University of Manchester, Manchester, UK s Molecular Genetics Section, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA |
| Abstract: | We and others have recently reported an association between amyotrophic lateral sclerosis (ALS) and single nucleotide polymorphisms on chromosome 9p21 in several populations. Here we show that the associated haplotype is the same in all populations and that several families previously shown to have genetic linkage to this region also share this haplotype. The most parsimonious explanation of these data are that there is a single founder for this form of disease. |
| Keywords: | Genetics Amyotrophic lateral sclerosis Frontotemporal dementia Finland |
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