Association of NIPA1 repeat expansions with amyotrophic lateral sclerosis in a large international cohort

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Association of NIPA1 repeat expansions with amyotrophic lateral sclerosis in a large international cohort
 
Tazelaar, Gijs H P; Dekker, Annelot M; van Vugt, Joke J F A; van der Spek, Rick A; Westeneng, Henk-Jan; Kool, Lindy J B G; Kenna, Kevin P; van Rheenen, Wouter; Pulit, Sara L; McLaughlin, Russell L; Sproviero, William; Iacoangeli, Alfredo; Hübers, Annemarie; Brenner, David; Morrison, Karen E; Shaw, Pamela J; Shaw, Christopher E; Panadés, Monica Povedano; Mora Pardina, Jesus S; Glass, Jonathan D; Hardiman, Orla; Al-Chalabi, Ammar; van Damme, Philip; Robberecht, Wim; Landers, John E; Ludolph, Albert C; Weishaupt, Jochen H; van den Berg, Leonard H; Veldink, Jan H; van Es, Michael A; Project MinE ALS Sequencing Consortium
(2019) Neurobiology of Aging, volume 74, pp. 234.e9 - 234.e15
(Article)
Abstract
NIPA1 (nonimprinted in Prader-Willi/Angelman syndrome 1) mutations are known to cause hereditary spastic paraplegia type 6, a neurodegenerative disease that phenotypically overlaps to some extent with amyotrophic lateral sclerosis (ALS). Previously, a genomewide screen for copy number variants found an association with rare deletions in NIPA1 and ALS, and subsequent ... read more
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Keywords: NIPA1, Amyotrophic lateral sclerosis, Repeat expansion, DNA Repeat Expansion/genetics, Meta-Analysis as Topic, Genetic Association Studies, Humans, Membrane Proteins/genetics, Logistic Models, Male, Amyotrophic Lateral Sclerosis/genetics, Peptides/genetics, Internationality, Female, Cohort Studies, Clinical Neurology, Geriatrics and Gerontology, Ageing, General Neuroscience, Developmental Biology, Research Support, Non-U.S. Gov't, Journal Article
DOI: https://doi.org/10.1016/j.neurobiolaging.2018.09.012
ISSN: 0197-4580
Publisher: Elsevier Inc.
Note: Funding Information: L.H. van den Berg serves on scientific advisory boards for the Prinses Beatrix Spierfonds, Thierry Latran Foundation, Biogen, and Cytokinetics; and serves on the editorial board of Amyotrophic Lateral Sclerosis And Frontotemporal Degeneration and the Journal of Neurology, Neurosurgery, and Psychiatry. O. Hardiman has received speaking honoraria from Novarits, Biogen Idec, Sanofi Aventis, and Merck-Serono; has been a member of advisory panels for Biogen Idec, Allergen, Ono Pharmaceuticals, Novartis, Cytokinetics, and Sanofi Aventis; and serves as the editor-in-chief of Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. A. Al-Chalabi has consulted for OrionPharma, Biogen Idec, Cytokinetics Inc, Treeway Inc, and Chronos Therapeutics. J.H. Veldink reports that his institute received consultancy fees from Vertex Pharmaceuticals outside the submitted work. M.A. van Es received grants from the Netherlands Organization for Health Research and Development (Veni scheme), the Thierry Latran foundation, the Netherlands ALS foundation (Stichting ALS Nederland), and the Joint Program Neurodegeneration (JPND). He has received travel grants from Baxalta and serves on the biomedical research advisory panel of the motor neurone disease association (MNDA). Other authors have no reported conflicts of interest. Funding Information: This study was supported by the ALS Foundation Netherlands, the Belgian ALS Liga and National Lottery, and Agency for Innovation by Science and Technology (IWT), and the MND Association (UK) (Project MinE, www.projectmine.com). Research leading to these results has received funding from the European Community's Health Seventh Framework Program (FP7/2007-2013). This study was supported by ZonMW under the frame of E-Rare-2, the ERA Net for Research on Rare Diseases (PYRAMID). This is an EU Joint Programme–Neurodegenerative Disease Research (JPND) project (STRENGTH, MEND, SOPHIA, ALS-CarE). The project is supported through the following funding organizations under the aegis of JPND: UK, Medical Research Council (MR/L501529/1; MR/R024804/1) and Economic and Social Research Council (ES/L008238/1); Ireland, Health Research Board; the Netherlands, ZonMw; Belgium, FWO-Vlaanderen. Samples used in this research were in part obtained from the UK National DNA Bank for MND Research, funded by the MND Association and the Wellcome Trust. This project was supported by the MND Association of England, Wales and Northern Ireland and the Netherlands Organisation for Health Research and Development (Vici scheme to L.H. van den Berg and veni scheme to M.A. van Es). NDAL cordially thanks Suna and Inan Kirac Foundation for their generous support. M.A. van Es is supported by the Thierry Latran Foundation, the Dutch ALS foundation and the Rudolf Magnus Brain Center Talent Fellowship. C.E. Shaw and A Al-Chalabi receive salary support from the National Institute for Health Research (NIHR) Dementia Biomedical Research Unit and Biomedical Research Center in Mental Health at South London and Maudsley NHS Foundation Trust and King's College London. O. Hardiman is funded by the Health Research Board Clinician Scientist Program and Science Foundation Ireland. J.E. Landers is supported by the US National Institutes of Health (NIH)/National Institute of Neurological Disorders and Stroke (R01NS073873) and the American ALS Association. R.L. McLaughlin is supported by the Thierry Latran Foundation and the ALS Association (2284). P. Van Damme holds a senior clinical investigatorship from FWO-Vlaanderen. Funding Information: This study was supported by the ALS Foundation Netherlands , the Belgian ALS Liga and National Lottery , and Agency for Innovation by Science and Technology (IWT) , and the MND Association (UK) (Project MinE, www.projectmine.com ). Research leading to these results has received funding from the European Community's Health Seventh Framework Program ( FP7/2007-2013 ). This study was supported by ZonMW under the frame of E-Rare-2 , the ERA Net for Research on Rare Diseases (PYRAMID) . This is an EU Joint Programme–Neurodegenerative Disease Research (JPND) project (STRENGTH, MEND, SOPHIA, ALS-CarE). The project is supported through the following funding organizations under the aegis of JPND: UK, Medical Research Council ( MR/L501529/1; MR/R024804/1 ) and Economic and Social Research Council ( ES/L008238/1 ); Ireland, Health Research Board; the Netherlands, ZonMw; Belgium, FWO-Vlaanderen. Samples used in this research were in part obtained from the UK National DNA Bank for MND Research, funded by the MND Association and the Wellcome Trust. This project was supported by the MND Association of England , Wales and Northern Ireland and the Netherlands Organisation for Health Research and Development (Vici scheme to L.H. van den Berg and veni scheme to M.A. van Es). NDAL cordially thanks Suna and Inan Kirac Foundation for their generous support. M.A. van Es is supported by the Thierry Latran Foundation, the Dutch ALS foundation and the Rudolf Magnus Brain Center Talent Fellowship. C.E. Shaw and A Al-Chalabi receive salary support from the National Institute for Health Research (NIHR) Dementia Biomedical Research Unit and Biomedical Research Center in Mental Health at South London and Maudsley NHS Foundation Trust and King's College London. O. Hardiman is funded by the Health Research Board Clinician Scientist Program and Science Foundation Ireland. J.E. Landers is supported by the US National Institutes of Health (NIH) / National Institute of Neurological Disorders and Stroke ( R01NS073873 ) and the American ALS Association. R.L. McLaughlin is supported by the Thierry Latran Foundation and the ALS Association ( 2284 ). P. Van Damme holds a senior clinical investigatorship from FWO-Vlaanderen. Funding Information: This study was supported by the ALS Foundation Netherlands, the Belgian ALS Liga and National Lottery, and Agency for Innovation by Science and Technology (IWT), and the MND Association (UK) (Project MinE, www.projectmine.com). Research leading to these results has received funding from the European Community's Health Seventh Framework Program (FP7/2007-2013). This study was supported by ZonMW under the frame of E-Rare-2, the ERA Net for Research on Rare Diseases (PYRAMID). This is an EU Joint Programme?Neurodegenerative Disease Research (JPND) project (STRENGTH, MEND, SOPHIA, ALS-CarE). The project is supported through the following funding organizations under the aegis of JPND: UK, Medical Research Council (MR/L501529/1; MR/R024804/1) and Economic and Social Research Council (ES/L008238/1); Ireland, Health Research Board; the Netherlands, ZonMw; Belgium, FWO-Vlaanderen. Samples used in this research were in part obtained from the UK National DNA Bank for MND Research, funded by the MND Association and the Wellcome Trust. This project was supported by the MND Association of England, Wales and Northern Ireland and the Netherlands Organisation for Health Research and Development (Vici scheme to L.H. van den Berg and veni scheme to M.A. van Es). NDAL cordially thanks Suna and Inan Kirac Foundation for their generous support. M.A. van Es is supported by the Thierry Latran Foundation, the Dutch ALS foundation and the Rudolf Magnus Brain Center Talent Fellowship. C.E. Shaw and A Al-Chalabi receive salary support from the National Institute for Health Research (NIHR) Dementia Biomedical Research Unit and Biomedical Research Center in Mental Health at South London and Maudsley NHS Foundation Trust and King's College London. O. Hardiman is funded by the Health Research Board Clinician Scientist Program and Science Foundation Ireland. J.E. Landers is supported by the US National Institutes of Health (NIH)/National Institute of Neurological Disorders and Stroke (R01NS073873) and the American ALS Association. R.L. McLaughlin is supported by the Thierry Latran Foundation and the ALS Association (2284). P. Van Damme holds a senior clinical investigatorship from FWO-Vlaanderen. Publisher Copyright: © 2018 Elsevier Inc.
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