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Digenic inheritance of mutations in SPG7 and AFG3L2 causes motor neuron and cerebellar disorders.

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Title: Digenic inheritance of mutations in SPG7 and AFG3L2 causes motor neuron and cerebellar disorders.
Authors: Estiar MA; Department of Human Genetics, McGill University, Montréal, Québec, Canada.; The Neuro (Montreal Neurological Institute-Hospital), McGill University, Montréal, Québec, Canada.; Broad Institute of Harvard and MIT, Cambridge, MA, USA., Yu E; Department of Human Genetics, McGill University, Montréal, Québec, Canada.; The Neuro (Montreal Neurological Institute-Hospital), McGill University, Montréal, Québec, Canada., Varghaei P; Department of Psychiatry, University of Ottawa, Ottawa, ON, Canada., Ross JP; Department of Human Genetics, McGill University, Montréal, Québec, Canada.; The Neuro (Montreal Neurological Institute-Hospital), McGill University, Montréal, Québec, Canada., Ashtiani S; Alberta Children's Hospital, Medical Genetics, Calgary, Canada., Bayne AN; Department of Pharmacology and Therapeutics, McGill University, Montréal, Québec, Canada.; Centre de Recherche en Biologie Structurale (CRBS), McGill University, Montréal, Québec, Canada., Coarelli G; Sorbonne Université, Paris Brain Institute - ICM, Inserm, CNRS, AP-HP, and Reference Center for Rare Diseases «Neurogenetics», Department of Medical Genetic, AP-HP, Hôpital Pitié-Salpêtrière, Paris, France., Timmann D; Department of Neurology and Center for Translational Neuro- and Behavioral Sciences, University Hospital Essen, University of Duisburg-Essen, Duisburg, Germany., Klockgether T; German Center for Neurodegenerative Diseases (DZNE), Bonn, Germany.; Department of Neurology, University Hospital Bonn, Bonn, Germany., Beijer D; Division of Translational Genomics of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Tübingen, Germany.; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany., Mengel D; Division of Translational Genomics of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Tübingen, Germany.; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany., Coutelier M; Sorbonne Université, Paris Brain Institute - ICM, Inserm, CNRS, AP-HP, and Reference Center for Rare Diseases «Neurogenetics», Department of Medical Genetic, AP-HP, Hôpital Pitié-Salpêtrière, Paris, France., Dion PA; Department of Human Genetics, McGill University, Montréal, Québec, Canada.; Broad Institute of Harvard and MIT, Cambridge, MA, USA.; Department of Neurology and Neurosurgery, McGill University, Montréal, Québec, Canada., Suchowersky O; Departments of Medicine (Neurology) and Medical Genetics, University of Alberta, Edmonton, Canada., Ewenczyk C; Sorbonne Université, Paris Brain Institute - ICM, Inserm, CNRS, AP-HP, and Reference Center for Rare Diseases «Neurogenetics», Department of Medical Genetic, AP-HP, Hôpital Pitié-Salpêtrière, Paris, France., Goizet C; Reference Center for Rare Diseases «Neurogenetics», Department of Medical Genetic, UMR 5287, Bordeaux University Hospital, and Univ. Bordeaux, CNRS, INCIA, NRGenTeam, Bordeaux, France., Stevanin G; Reference Center for Rare Diseases «Neurogenetics», Department of Medical Genetic, UMR 5287, Bordeaux University Hospital, and Univ. Bordeaux, CNRS, INCIA, NRGenTeam, Bordeaux, France., Van Damme P; Department of Neurology, Neuromuscular Reference Center, University Hospitals Leuven, Louvain, Belgium., Al-Chalabi A; Department of Clinical Neuroscience, King's College London, London, UK., Zuchner S; Dr. John T. Macdonald Foundation, Department of Human Genetics and John P, Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, Miami, FL, USA., Synofzik M; Division of Translational Genomics of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Tübingen, Germany.; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany., Veldink JH; Department of Neurology, University Medical Center Utrecht, Utrecht, The Netherlands., Trempe JF; Department of Pharmacology and Therapeutics, McGill University, Montréal, Québec, Canada.; Centre de Recherche en Biologie Structurale (CRBS), McGill University, Montréal, Québec, Canada., Durr A; Sorbonne Université, Paris Brain Institute - ICM, Inserm, CNRS, AP-HP, and Reference Center for Rare Diseases «Neurogenetics», Department of Medical Genetic, AP-HP, Hôpital Pitié-Salpêtrière, Paris, France., Rouleau GA; Department of Human Genetics, McGill University, Montréal, Québec, Canada.; The Neuro (Montreal Neurological Institute-Hospital), McGill University, Montréal, Québec, Canada.; Department of Neurology and Neurosurgery, McGill University, Montréal, Québec, Canada., Gan-Or Z; Department of Human Genetics, McGill University, Montréal, Québec, Canada. ziv.gan-or@mcgill.ca.; The Neuro (Montreal Neurological Institute-Hospital), McGill University, Montréal, Québec, Canada. ziv.gan-or@mcgill.ca.; Department of Neurology and Neurosurgery, McGill University, Montréal, Québec, Canada. ziv.gan-or@mcgill.ca.
Corporate Authors: Project MinE ALS Sequencing Consortium
Source: BMC medicine [BMC Med] 2026 Mar 24; Vol. 24 (1). Date of Electronic Publication: 2026 Mar 24.
Publication Type: Journal Article
Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101190723 Publication Model: Electronic Cited Medium: Internet ISSN: 1741-7015 (Electronic) Linking ISSN: 17417015 NLM ISO Abbreviation: BMC Med Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Digenic inheritance of mutations in SPG7 and AFG3L2 causes motor neuron and cerebellar disorders.
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  Data: <searchLink fieldCode="AU" term="%22Estiar+MA%22">Estiar MA</searchLink>; Department of Human Genetics, McGill University, Montréal, Québec, Canada.; The Neuro (Montreal Neurological Institute-Hospital), McGill University, Montréal, Québec, Canada.; Broad Institute of Harvard and MIT, Cambridge, MA, USA.<br /><searchLink fieldCode="AU" term="%22Yu+E%22">Yu E</searchLink>; Department of Human Genetics, McGill University, Montréal, Québec, Canada.; The Neuro (Montreal Neurological Institute-Hospital), McGill University, Montréal, Québec, Canada.<br /><searchLink fieldCode="AU" term="%22Varghaei+P%22">Varghaei P</searchLink>; Department of Psychiatry, University of Ottawa, Ottawa, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Ross+JP%22">Ross JP</searchLink>; Department of Human Genetics, McGill University, Montréal, Québec, Canada.; The Neuro (Montreal Neurological Institute-Hospital), McGill University, Montréal, Québec, Canada.<br /><searchLink fieldCode="AU" term="%22Ashtiani+S%22">Ashtiani S</searchLink>; Alberta Children's Hospital, Medical Genetics, Calgary, Canada.<br /><searchLink fieldCode="AU" term="%22Bayne+AN%22">Bayne AN</searchLink>; Department of Pharmacology and Therapeutics, McGill University, Montréal, Québec, Canada.; Centre de Recherche en Biologie Structurale (CRBS), McGill University, Montréal, Québec, Canada.<br /><searchLink fieldCode="AU" term="%22Coarelli+G%22">Coarelli G</searchLink>; Sorbonne Université, Paris Brain Institute - ICM, Inserm, CNRS, AP-HP, and Reference Center for Rare Diseases «Neurogenetics», Department of Medical Genetic, AP-HP, Hôpital Pitié-Salpêtrière, Paris, France.<br /><searchLink fieldCode="AU" term="%22Timmann+D%22">Timmann D</searchLink>; Department of Neurology and Center for Translational Neuro- and Behavioral Sciences, University Hospital Essen, University of Duisburg-Essen, Duisburg, Germany.<br /><searchLink fieldCode="AU" term="%22Klockgether+T%22">Klockgether T</searchLink>; German Center for Neurodegenerative Diseases (DZNE), Bonn, Germany.; Department of Neurology, University Hospital Bonn, Bonn, Germany.<br /><searchLink fieldCode="AU" term="%22Beijer+D%22">Beijer D</searchLink>; Division of Translational Genomics of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Tübingen, Germany.; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Mengel+D%22">Mengel D</searchLink>; Division of Translational Genomics of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Tübingen, Germany.; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Coutelier+M%22">Coutelier M</searchLink>; Sorbonne Université, Paris Brain Institute - ICM, Inserm, CNRS, AP-HP, and Reference Center for Rare Diseases «Neurogenetics», Department of Medical Genetic, AP-HP, Hôpital Pitié-Salpêtrière, Paris, France.<br /><searchLink fieldCode="AU" term="%22Dion+PA%22">Dion PA</searchLink>; Department of Human Genetics, McGill University, Montréal, Québec, Canada.; Broad Institute of Harvard and MIT, Cambridge, MA, USA.; Department of Neurology and Neurosurgery, McGill University, Montréal, Québec, Canada.<br /><searchLink fieldCode="AU" term="%22Suchowersky+O%22">Suchowersky O</searchLink>; Departments of Medicine (Neurology) and Medical Genetics, University of Alberta, Edmonton, Canada.<br /><searchLink fieldCode="AU" term="%22Ewenczyk+C%22">Ewenczyk C</searchLink>; Sorbonne Université, Paris Brain Institute - ICM, Inserm, CNRS, AP-HP, and Reference Center for Rare Diseases «Neurogenetics», Department of Medical Genetic, AP-HP, Hôpital Pitié-Salpêtrière, Paris, France.<br /><searchLink fieldCode="AU" term="%22Goizet+C%22">Goizet C</searchLink>; Reference Center for Rare Diseases «Neurogenetics», Department of Medical Genetic, UMR 5287, Bordeaux University Hospital, and Univ. Bordeaux, CNRS, INCIA, NRGenTeam, Bordeaux, France.<br /><searchLink fieldCode="AU" term="%22Stevanin+G%22">Stevanin G</searchLink>; Reference Center for Rare Diseases «Neurogenetics», Department of Medical Genetic, UMR 5287, Bordeaux University Hospital, and Univ. Bordeaux, CNRS, INCIA, NRGenTeam, Bordeaux, France.<br /><searchLink fieldCode="AU" term="%22Van+Damme+P%22">Van Damme P</searchLink>; Department of Neurology, Neuromuscular Reference Center, University Hospitals Leuven, Louvain, Belgium.<br /><searchLink fieldCode="AU" term="%22Al-Chalabi+A%22">Al-Chalabi A</searchLink>; Department of Clinical Neuroscience, King's College London, London, UK.<br /><searchLink fieldCode="AU" term="%22Zuchner+S%22">Zuchner S</searchLink>; Dr. John T. Macdonald Foundation, Department of Human Genetics and John P, Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, Miami, FL, USA.<br /><searchLink fieldCode="AU" term="%22Synofzik+M%22">Synofzik M</searchLink>; Division of Translational Genomics of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Tübingen, Germany.; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Veldink+JH%22">Veldink JH</searchLink>; Department of Neurology, University Medical Center Utrecht, Utrecht, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Trempe+JF%22">Trempe JF</searchLink>; Department of Pharmacology and Therapeutics, McGill University, Montréal, Québec, Canada.; Centre de Recherche en Biologie Structurale (CRBS), McGill University, Montréal, Québec, Canada.<br /><searchLink fieldCode="AU" term="%22Durr+A%22">Durr A</searchLink>; Sorbonne Université, Paris Brain Institute - ICM, Inserm, CNRS, AP-HP, and Reference Center for Rare Diseases «Neurogenetics», Department of Medical Genetic, AP-HP, Hôpital Pitié-Salpêtrière, Paris, France.<br /><searchLink fieldCode="AU" term="%22Rouleau+GA%22">Rouleau GA</searchLink>; Department of Human Genetics, McGill University, Montréal, Québec, Canada.; The Neuro (Montreal Neurological Institute-Hospital), McGill University, Montréal, Québec, Canada.; Department of Neurology and Neurosurgery, McGill University, Montréal, Québec, Canada.<br /><searchLink fieldCode="AU" term="%22Gan-Or+Z%22">Gan-Or Z</searchLink>; Department of Human Genetics, McGill University, Montréal, Québec, Canada. ziv.gan-or@mcgill.ca.; The Neuro (Montreal Neurological Institute-Hospital), McGill University, Montréal, Québec, Canada. ziv.gan-or@mcgill.ca.; Department of Neurology and Neurosurgery, McGill University, Montréal, Québec, Canada. ziv.gan-or@mcgill.ca.
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