Analysis of Mutations in AARS2 in a Series of CSF1R-Negative Patients With Adult-Onset Leukoencephalopathy With Axonal Spheroids and Pigmented Glia

Author:

Lynch David S.1,Zhang Wei Jia2,Lakshmanan Rahul3,Kinsella Justin A.4,Uzun Günes Altiokka5,Karbay Merih5,Tüfekçioglu Zeynep5,Hanagasi Hasmet5,Burke Georgina6,Foulds Nicola7,Hammans Simon R.8,Bhattacharjee Anupam9,Wilson Heather9,Adams Matthew3,Walker Mark10,Nicoll James A. R.10,Chataway Jeremy11,Fox Nick12,Davagnanam Indran3,Phadke Rahul13,Houlden Henry14

Affiliation:

1. Department of Molecular Neuroscience, University College London Institute of Neurology, London, England2The Leonard Wolfson Experimental Neurology Centre, University College London Institute of Neurology, London, England

2. Department of Molecular Neuroscience, University College London Institute of Neurology, London, England3Department of Neurology, Royal Free Hospital, London, England

3. Lysholm Department of Neuroradiology, The National Hospital for Neurology and Neurosurgery, London, England

4. Dementia Research Centre, Department of Neurodegeneration, The National Hospital for Neurology and Neurosurgery, University College London Institute of Neurology, London, England6University College Dublin, Department of Neurology, St Vincent’s University Hospital, Dublin, Ireland

5. Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey

6. Department of Neurology, Queen Alexandra Hospital, Portsmouth, England9Wessex Neurological Centre, University Hospital Southampton, Southampton, England

7. Wessex Clinical Genetics Services, Princess Anne Hospital, Academic Unit of Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, England

8. Department of Neurology, Queen Alexandra Hospital, Portsmouth, England

9. Department of Neurology, Royal Free Hospital, London, England

10. Clinical Neurosciences, Clinical & Experimental Sciences, University of Southampton, Department of Cellular Pathology, Southampton General Hospital, Southampton, England

11. Department of Neuroinflammation, University College London Institute of Neurology, London, England

12. Dementia Research Centre, Department of Neurodegeneration, The National Hospital for Neurology and Neurosurgery, University College London Institute of Neurology, London, England

13. Division of Neuropathology and Department of Neurodegenerative Disease, The National Hospital for Neurology and Neurosurgery, University College London Institute of Neurology, London, England

14. Department of Molecular Neuroscience, University College London Institute of Neurology, London, England14Neurogenetics Laboratory, The National Hospital for Neurology and Neurosurgery, London, England

Publisher

American Medical Association (AMA)

Subject

Clinical Neurology

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