Confirmatory Results
Mutations in the SPTLC1 gene are a cause of juvenile amyotrophic lateral sclerosis that may be amenable to serine supplementation
J. O. Johnson, View ORCID ProfileR. Chia, D. E. Miller, R. Li, Y. Abramzon, R. Kumaran, N. Alahmady, View ORCID ProfileF. Faghri, A. E. Renton, S. D. Topp, H. A. Pliner, J. R. Gibbs, View ORCID ProfileJ. Ding, N. Smith, N. Landeck, M. A. Nalls, M. R. Cookson, O. Pletnikova, J. Troncoso, S. W. Scholz, M. S. Sabir, S. Ahmed, C. L. Dalgard, C. Troakes, A. R. Jones, A. Shatunov, A. Iacoangeli, A. Al Khleifat, N. Ticozzi, V. Silani, C. Gellera, I. P. Blair, C. Dobson-Stone, View ORCID ProfileJ. B. Kwok, B. K. England, E. S. Bonkowski, The International ALS Genomics Consortium, The ITALSGEN Consortium, The FALS Sequencing Consortium, The American Genome Center, P. J. Tienari, D. J. Stone, K. E. Morrison, P. J. Shaw, A. Al-Chalabi, R. H. Brown Jr, M. Brunetti, A. Calvo, G. Mora, H. Al-Saif, M. Gotkine, F. Leigh, I. J. Chang, S. J. Perlman, I. Glass, C. E. Shaw, J. E. Landers, View ORCID ProfileA. Chiò, T. O. Crawford, B. N. Smith, B. J. Traynor
doi: https://doi.org/10.1101/770339
J. O. Johnson
1Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD 20892, USA
R. Chia
1Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD 20892, USA
D. E. Miller
2Department of Medicine, Division of Medical Genetics, University of Washington, Seattle, WA 98195, USA
3Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, WA and Seattle Children’s Hospital, Seattle, WA 98105, USA
R. Li
4Department of Pediatrics, Children’s Hospital of Richmond at VCU, Richmond, VA 23298, USA
Y. Abramzon
1Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD 20892, USA
5Sobell Department of Motor Neuroscience and Movement Disorders, University College London, Institute of Neurology, London, UK
R. Kumaran
6Cell Biology and Gene Expression Section, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD 20892, USA
N. Alahmady
7Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King’s College London, 125 Coldharbour Lane, Camberwell, SE5 9NU, London, UK
8Department of Biology, Imam Abdulrahman bin Faisal University, Dammam, Saudi Arabia
F. Faghri
9Molecular Genetics Section, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD 20892, USA
10Department of Computer Science, University of Illinois at Urbana-Champaign, Urbana, IL 61801, USA
A. E. Renton
1Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD 20892, USA
11Nash Family Department of Neuroscience, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA
12Ronald M. Loeb Center for Alzheimer’s Disease, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA
S. D. Topp
7Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King’s College London, 125 Coldharbour Lane, Camberwell, SE5 9NU, London, UK
13UK Dementia Research Institute at King’s College London, London, UK
H. A. Pliner
1Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD 20892, USA
J. R. Gibbs
14Computational Biology Core, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD 20892, USA
J. Ding
14Computational Biology Core, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD 20892, USA
N. Smith
6Cell Biology and Gene Expression Section, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD 20892, USA
N. Landeck
6Cell Biology and Gene Expression Section, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD 20892, USA
M. A. Nalls
15Data Tecnica International, Glen Echo, MD 20812, USA
M. R. Cookson
6Cell Biology and Gene Expression Section, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD 20892, USA
O. Pletnikova
16Department of Pathology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA
J. Troncoso
16Department of Pathology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA
17Department of Neurology, Johns Hopkins University, Baltimore, MD 21287, USA
S. W. Scholz
18Neurodegenerative Diseases Research Unit, Laboratory of Neurogenetics, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA
17Department of Neurology, Johns Hopkins University, Baltimore, MD 21287, USA
M. S. Sabir
18Neurodegenerative Diseases Research Unit, Laboratory of Neurogenetics, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA
S. Ahmed
18Neurodegenerative Diseases Research Unit, Laboratory of Neurogenetics, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA
C. L. Dalgard
19Department of Anatomy, Physiology & Genetics, Uniformed Services University of the Health Sciences, Bethesda, MD 20814, USA
20The American Genome Center, Collaborative Health Initiative Research Program, Uniformed Services University of the Health Sciences, Bethesda, MD 20814, USA
C. Troakes
7Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King’s College London, 125 Coldharbour Lane, Camberwell, SE5 9NU, London, UK
A. R. Jones
7Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King’s College London, 125 Coldharbour Lane, Camberwell, SE5 9NU, London, UK
A. Shatunov
7Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King’s College London, 125 Coldharbour Lane, Camberwell, SE5 9NU, London, UK
A. Iacoangeli
7Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King’s College London, 125 Coldharbour Lane, Camberwell, SE5 9NU, London, UK
A. Al Khleifat
7Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King’s College London, 125 Coldharbour Lane, Camberwell, SE5 9NU, London, UK
N. Ticozzi
21Istituto Auxologico Italiano, IRCCS, Department of Neurology-Stroke Unit and Laboratory of Neuroscience, Milan 20145, Italy
22Department of Pathophysiology and Transplantation, “Dino Ferrari” Center, Università degli Studi di Milano, Milan 20122, Italy
V. Silani
21Istituto Auxologico Italiano, IRCCS, Department of Neurology-Stroke Unit and Laboratory of Neuroscience, Milan 20145, Italy
22Department of Pathophysiology and Transplantation, “Dino Ferrari” Center, Università degli Studi di Milano, Milan 20122, Italy
C. Gellera
23Unit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione IRCCS Istituto Neurologico ‘Carlo Besta’, Milan 20133, Italy
I. P. Blair
24Centre for Motor Neuron Disease Research, Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Macquarie University, Sydney, New South Wales, Australia
C. Dobson-Stone
25The University of Sydney, Brain and Mind Centre and Central Clinical School, Faculty of Medicine and Health, Camperdown, New South Wales, Australia
26School of Medical Sciences, University of New South Wales, Kensington, New South Wales, Australia
J. B. Kwok
25The University of Sydney, Brain and Mind Centre and Central Clinical School, Faculty of Medicine and Health, Camperdown, New South Wales, Australia
26School of Medical Sciences, University of New South Wales, Kensington, New South Wales, Australia
B. K. England
27Human Genetics Branch, National Institute of Mental Health, National Institutes of Health, Bethesda, MD 20892, USA
E. S. Bonkowski
3Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, WA and Seattle Children’s Hospital, Seattle, WA 98105, USA
28The International ALS Genomics Consortium (see Supplementary Materials for full member list and affiliations)
29The ITALSGEN Consortium (see Supplementary Materials for full member list and affiliations)
30The FALS Sequencing Consortium (see Supplementary Materials for full member list and affiliations)
31The American Genome Center (see Supplementary Materials for full member list and affiliations)
P. J. Tienari
32Department of Neurology, Helsinki University Hospital and Translational Immunology Programme, Biomedicum, University of Helsinki, Helsinki FIN-02900, Finland
D. J. Stone
33Genetics and Pharmacogenomics, Merck & Co., Inc., West Point, PA 19486, USA
K. E. Morrison
34Faculty of Medicine, Health and Life Sciences, Queen’s University Belfast, UK
P. J. Shaw
35Sheffield Institute for Translational Neuroscience, Department of Neuroscience, University of Sheffield, Sheffield S10 2HQ, UK
A. Al-Chalabi
7Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King’s College London, 125 Coldharbour Lane, Camberwell, SE5 9NU, London, UK
R. H. Brown Jr
36Department of Neurology, University of Massachusetts Medical School, Worcester, MA 01605, USA
M. Brunetti
37Molecular Genetics Unit, Department of Clinical Pathology, A.S.O. O.I.R.M.-S. Anna, 10126 Turin, Italy
A. Calvo
38‘Rita Levi Montalcini’ Department of Neuroscience, University of Turin, Turin, Italy
G. Mora
39ALS Center, ICS Maugeri, IRCCS, Milan, Italy
H. Al-Saif
40Department of Neurology, Children’s Hospital of Richmond at VCU, Richmond, VA 23298, USA
M. Gotkine
41Department of Neurology, The Agnes Ginges Center for Human Neurogenetics, Hadassah-Hebrew University Medical Center, Israel
F. Leigh
42Department of Neurology, Seattle Children’s Hospital, University of Washington, Seattle, WA 98105, USA
I. J. Chang
2Department of Medicine, Division of Medical Genetics, University of Washington, Seattle, WA 98195, USA
S. J. Perlman
42Department of Neurology, Seattle Children’s Hospital, University of Washington, Seattle, WA 98105, USA
I. Glass
2Department of Medicine, Division of Medical Genetics, University of Washington, Seattle, WA 98195, USA
3Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, WA and Seattle Children’s Hospital, Seattle, WA 98105, USA
C. E. Shaw
7Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King’s College London, 125 Coldharbour Lane, Camberwell, SE5 9NU, London, UK
13UK Dementia Research Institute at King’s College London, London, UK
J. E. Landers
36Department of Neurology, University of Massachusetts Medical School, Worcester, MA 01605, USA
A. Chiò
43ALS Center, ‘Rita Levi Montalcini’ Department of Neuroscience, University of Turin, Turin, Italy
44Neurology 1, AOU Città della Salute e della Scienza, Turin, Italy
T. O. Crawford
45Departments of Neurology and Pediatrics, Johns Hopkins University, Baltimore MD 21287, USA
B. N. Smith
7Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King’s College London, 125 Coldharbour Lane, Camberwell, SE5 9NU, London, UK
B. J. Traynor
1Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD 20892, USA
17Department of Neurology, Johns Hopkins University, Baltimore, MD 21287, USA
Article usage
Posted June 29, 2020.
Mutations in the SPTLC1 gene are a cause of juvenile amyotrophic lateral sclerosis that may be amenable to serine supplementation
J. O. Johnson, R. Chia, D. E. Miller, R. Li, Y. Abramzon, R. Kumaran, N. Alahmady, F. Faghri, A. E. Renton, S. D. Topp, H. A. Pliner, J. R. Gibbs, J. Ding, N. Smith, N. Landeck, M. A. Nalls, M. R. Cookson, O. Pletnikova, J. Troncoso, S. W. Scholz, M. S. Sabir, S. Ahmed, C. L. Dalgard, C. Troakes, A. R. Jones, A. Shatunov, A. Iacoangeli, A. Al Khleifat, N. Ticozzi, V. Silani, C. Gellera, I. P. Blair, C. Dobson-Stone, J. B. Kwok, B. K. England, E. S. Bonkowski, The International ALS Genomics Consortium, The ITALSGEN Consortium, The FALS Sequencing Consortium, The American Genome Center, P. J. Tienari, D. J. Stone, K. E. Morrison, P. J. Shaw, A. Al-Chalabi, R. H. Brown Jr, M. Brunetti, A. Calvo, G. Mora, H. Al-Saif, M. Gotkine, F. Leigh, I. J. Chang, S. J. Perlman, I. Glass, C. E. Shaw, J. E. Landers, A. Chiò, T. O. Crawford, B. N. Smith, B. J. Traynor
bioRxiv 770339; doi: https://doi.org/10.1101/770339
Mutations in the SPTLC1 gene are a cause of juvenile amyotrophic lateral sclerosis that may be amenable to serine supplementation
J. O. Johnson, R. Chia, D. E. Miller, R. Li, Y. Abramzon, R. Kumaran, N. Alahmady, F. Faghri, A. E. Renton, S. D. Topp, H. A. Pliner, J. R. Gibbs, J. Ding, N. Smith, N. Landeck, M. A. Nalls, M. R. Cookson, O. Pletnikova, J. Troncoso, S. W. Scholz, M. S. Sabir, S. Ahmed, C. L. Dalgard, C. Troakes, A. R. Jones, A. Shatunov, A. Iacoangeli, A. Al Khleifat, N. Ticozzi, V. Silani, C. Gellera, I. P. Blair, C. Dobson-Stone, J. B. Kwok, B. K. England, E. S. Bonkowski, The International ALS Genomics Consortium, The ITALSGEN Consortium, The FALS Sequencing Consortium, The American Genome Center, P. J. Tienari, D. J. Stone, K. E. Morrison, P. J. Shaw, A. Al-Chalabi, R. H. Brown Jr, M. Brunetti, A. Calvo, G. Mora, H. Al-Saif, M. Gotkine, F. Leigh, I. J. Chang, S. J. Perlman, I. Glass, C. E. Shaw, J. E. Landers, A. Chiò, T. O. Crawford, B. N. Smith, B. J. Traynor
bioRxiv 770339; doi: https://doi.org/10.1101/770339
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