Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy,Genetics in Medicine

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Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy
Genetics in Medicine ( IF 8.8 ) Pub Date : 2023-08-31 , DOI: 10.1016/j.gim.2023.100961
Joohyun Park ₁ , Arianna Tucci ₂ , Valentina Cipriani ₃ , German Demidov ₁ , Clarissa Rocca ₄ , Jan Senderek ₅ , Michaela Butryn ₆ , Ana Velic ₇ , Tanya Lam ₈ , Evangelia Galanaki ₄ , Elisa Cali ₄ , Letizia Vestito ₂ , Reza Maroofian ₄ , Natalie Deininger ₁ , Maren Rautenberg ₁ , Jakob Admard ₁ , Gesa-Astrid Hahn ₉ , Claudius Bartels ₁₀ , Nienke J H van Os ₁₁ , Rita Horvath ₁₂ , Patrick F Chinnery ₁₃ , May Yung Tiet ₁₂ , Channa Hewamadduma ₁₄ , Marios Hadjivassiliou ₁₅ , Susan M Downes ₁₆ , Andrea H Németh ₁₇ , George K Tofaris ₁₈ , , Nicholas W Wood ₁₉ , Stefanie N Hayer ₂₀ , Friedemann Bender ₂₀ , Benita Menden ₁ , Isabell Cordts ₂₁ , Katrin Klein ₁ , Huu Phuc Nguyen ₂₂ , Joachim K Krauss ₂₃ , Christian Blahak ₂₄ , Tim M Strom ₂₅ , Marc Sturm ₁ , Bart van de Warrenburg ₁₁ , Holger Lerche ₂₆ , Boris Maček ₇ , Matthis Synofzik ₂₀ , Stephan Ossowski ₁ , Dagmar Timmann ₂₇ , Marc E Wolf ₂₈ , Damian Smedley ₂ , Olaf Riess ₂₉ , Ludger Schöls ₃₀ , Henry Houlden ₂ , Tobias B Haack ₂₉ , Holger Hengel ₃₁

Affiliation

Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
William Harvey Research Institute, Faculty of Medicine and Dentistry, Queen Mary University of London, London, United Kingdom.
William Harvey Research Institute, Faculty of Medicine and Dentistry, Queen Mary University of London, London, United Kingdom; UCL Institute of Ophthalmology, University College London, London, United Kingdom; Moorfields Eye Hospital NHS Foundation Trust, London, United Kingdom; UCL Genetics Institute, University College London, London, United Kingdom.
Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.
Department of Neurology, Friedrich-Baur-Institute, University Hospital, Ludwig-Maximilian University Munich, Munich, Germany.
German Center for Neurodegenerative Diseases (DZNE), Magdeburg, Germany.
Proteome Center Tübingen, University of Tübingen, Tübingen, Germany.
Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom; St George's Hospital NHS Trust, London, United Kingdom.
CeGaT GmbH, Center for Genomics and Transcriptomics, Tübingen, Germany.
Department of Neurology, Otto-von-Guericke University, Magdeburg, Germany.
Department of Neurology, Donders Institute for Brain, Cognition and Behavior, Center of Expertise for Parkinson and Movement Disorders, Radboud University Medical Center, Nijmegen, The Netherlands.
Department of Clinical Neurosciences, John Van Geest Centre for Brain Repair, University of Cambridge, Cambridge, United Kingdom.
Department of Clinical Neurosciences, John Van Geest Centre for Brain Repair, University of Cambridge, Cambridge, United Kingdom; MRC Mitochondrial Biology Unit & Department of Clinical Neurosciences, University of Cambridge, Cambridge Biomedical Campus, Cambridge, United Kingdom.
Sheffield Institute for Translational Neurosciences (SITraN), The University of Sheffield, Sheffield, United Kingdom; Royal Hallamshire Hospital, Sheffield Teaching Hospitals Foundation Trust, Sheffield, United Kingdom.
Royal Hallamshire Hospital, Sheffield Teaching Hospitals Foundation Trust, Sheffield, United Kingdom; Academic Department of Neurosciences, Sheffield Teaching Hospitals NHS Trust and The University of Sheffield, Sheffield, United Kingdom.
Nuffield Laboratory of Ophthalmology, Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, United Kingdom; Oxford Eye Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, United Kingdom.
Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, United Kingdom; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Trust, Oxford, United Kingdom.
Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, United Kingdom.
Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.
Department of Neurodegenerative Diseases, Center for Neurology and Hertie-Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.
Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany; Department of Neurology, Klinikum rechts der Isar, Technical University Munich (TUM), Munich, Germany.
Department of Human Genetics, Medical Faculty, Ruhr University Bochum, Bochum, Germany.
Department of Neurosurgery, Hannover Medical School, Hannover, Germany.
Department of Neurology, Ortenau Klinikum Lahr-Ettenheim, Lahr, Germany; Department of Neurology, Universitätsmedizin Mannheim, Medical Faculty Mannheim, University of Heidelberg, Mannheim, Germany.
Institute of Human Genetics, Technische Universität München, Munich, Germany; Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany.
Department of Neurology and Epileptology, Hertie-Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.
Department of Neurology and Center for Translational Neuro- and Behavioral Sciences (C-TNBS), Essen University Hospital, University of Duisburg-Essen, Essen, Germany.
Department of Neurology, Universitätsmedizin Mannheim, Medical Faculty Mannheim, University of Heidelberg, Mannheim, Germany; Department of Neurology, Klinikum Stuttgart, Stuttgart, Germany.
Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany; Center for Rare Diseases, University of Tübingen, Tübingen, Germany.
Department of Neurodegenerative Diseases, Center for Neurology and Hertie-Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany; Center for Rare Diseases, University of Tübingen, Tübingen, Germany.
Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany; Department of Neurodegenerative Diseases, Center for Neurology and Hertie-Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.