Clinical and genetic characterization of leukoencephalopathies in adults

Author:

Lynch David S.12,Rodrigues Brandão de Paiva Anderson3,Zhang Wei Jia1,Bugiardini Enrico4,Freua Fernando3,Tavares Lucato Leandro5,Macedo-Souza Lucia Inês6,Lakshmanan Rahul7,Kinsella Justin A.8,Merwick Aine910,Rossor Alexander M.411,Bajaj Nin12,Herron Brian13,McMonagle Paul14,Morrison Patrick J.15,Hughes Deborah1,Pittman Alan1,Laurà Matilde4,Reilly Mary M4,Warren Jason D16,Mummery Catherine J16,Schott Jonathan M.16,Adams Matthew7,Fox Nick C.16,Murphy Elaine9,Davagnanam Indran7,Kok Fernando3,Chataway Jeremy17,Houlden Henry118

Affiliation:

1. 1 Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK

2. 2 Leonard Wolfson Experimental Neurology Centre, UCL Institute of Neurology, London, UK

3. 3 Neurogenetics Unit, Neurology Department, Hospital das Clínicas da Universidade de São Paulo, São Paulo, Brazil

4. 4 MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, London, UK

5. 5 Instituto de Radiologia, Hospital das Clínicas da Universidade de São Paulo, São Paulo, Brazil

6. 6 Centro de Estudos do Genoma Humano, Universidade de São Paulo, São Paulo, Brazil

7. 7 Lysholm Department of Neuroradiology, National Hospital for Neurology and Neurosurgery, Queen Square, London, UK

8. 8 Neurology Department, St. Vincent’s University Hospital and University College Dublin, Ireland

9. 9 Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, Queen Square, London, UK

10. 10 Chelsea and Westminster NHS Foundation Trust, London, UK

11. 11 Sobell Department of Motor Neuroscience and Movement Disorders, UCL Institute of Neurology, London, UK

12. 12 Department of Neurology, Queens Medical Centre, Nottingham, UK

13. 13 Department of Neuropathology, Royal Victoria Hospital, Belfast, Northern Ireland, UK

14. 14 Department of Neurology, Royal Victoria Hospital, Belfast, Northern Ireland, UK

15. 15 Centre for Cancer Research and Cell Biology, Queens University of Belfast, 97 Lisburn Road, Belfast BT9 7AE, UK

16. 16 Dementia Research Centre, UCL Institute of Neurology, London, UK

17. 17 Department of Neuroinflammation, UCL Institute of Neurology, London, UK

18. 18 Neurogenetics Laboratory, National Hospital for Neurology and Neurosurgery, Queen Square, London, UK

Funder

National Institutes of Health

Wellcome Trust

National Institute for Health Research

Publisher

Oxford University Press (OUP)

Subject

Clinical Neurology

Reference13 articles.

1. A practical approach to diagnosing adult onset leukodystrophies;Ahmed;J Neurol Neurosurg Psychiatry,2014

2. Cathepsin A-related arteriopathy with strokes and leukoencephalopathy (CARASAL);Bugiani;Neurology,2016

3. Novel (ovario) leukodystrophy related to AARS2 mutations;Dallabona;Neurology,2014

4. Quantifying the carrier female phenotype in Pelizaeus-Merzbacher disease;Hurst;Genet Med,2006

5. Analysis of mutations in AARS2 in a series of CSF1R -negative patients with adult-onset leukoencephalopathy with axonal spheroids and pigmented glia;Lynch;JAMA Neurol,2016

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