Multi-System Neurological Disease Is Common In Patients with OPA1 Mutations
| Identifier | 20100309_nanos_sciplatform_04_ppt.pdf |
| Title | Multi-System Neurological Disease Is Common In Patients with OPA1 Mutations |
| Creator | Patrick Yu-Wai-Man; Philip G. Griffiths; Grainne S. Gorman; Charles M. Lourenco; Alan F. Wright; Michaela Auer-Grumbach; Guy Lenaers; Douglass M. Turnbull; Marcela Votruba; Massimo Zeviani; Valerio Carelli; Lawrence Bindoff; Rita Horvath; Patrizia Amati-Bonneau; Patrick F. Chinnery |
| Affiliation | (PY) (GSG) (DMT) (PFC) Mitochondrial Research Group, Institute for Ageing and Health, The Medical School, Newcastle University, Newcastle upon Tyne, United Kingdom; (PGG) Department of Ophthalmology, Royal Victoria Infirmary, Newcastle upon Tyne, United Kingdom; (CML) Neuroscience Department, School of Medicine of Ribeirao Preto, University of Sao Paulo, Sao Paulo, Brazil; (AFW) MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, Western General Hospital, Edinburgh, United Kingdom; (MA) Institute of Human Genetics and University Clinic of Internal Medicine, Division of Endocrinology and Nuclear Medicine, Medical University of Graz, Graz, Austria; (GL) INSERM U-583, Institut des Neurosciences de Montpellier, Université de Montpellier I et II, Montpellier, France; (MV) Cardiff Eye Unit, University Hospital of Wales, Cardiff, United Kingdom; (MZ) Unit of Molecular Neurogenetics, Pierfranco and Luisa Mariani Center for the Study of Childrens Mitochondrial Disorders, National Neurological Institute, Milan, Italy; (VC) Dipartimento di Scienze Neurologiche, Università di Bologna, Bologna, Italy; (LB) Department of Neurology, Haukeland University Hospital, Bergen, Norway; (RH) Department of Neurology, Friedrich-Baur-Institute, Ludwig Maximilians University, Munich, Germany; (PA) Département de Biochimie et Génétique, Centre Hospitalier Universitaire dAngers, Angers, France |
| Subject | Dominant optic atrophy; Inherited optic neuropathy; Mitochondrial genetic disorders; Hereditary spastic paraplegia; Multiple sclerosis |
| Description | Autosomal dominant optic atrophy (DOA) classically presents in early childhood with progressive visual failure, and about 60% of families harbor pathogenic mutations in the OPA1 gene (3q28-q29). |
| Date | 2010-03-09 |
| Language | eng |
| Format | application/pdf |
| Format Creation | Microsoft PowerPoint |
| Type | Text |
| Source | 2010 North American Neuro-Ophthalmology Society Annual Meeting |
| Relation is Part of | NANOS 2010: Scientific Platform Presentations |
| Collection | Neuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu |
| Publisher | Spencer S. Eccles Health Sciences Library, University of Utah |
| Holding Institution | North American Neuro-Ophthalmology Association. NANOS Executive Office 5841 Cedar Lake Road, Suite 204, Minneapolis, MN 55416 |
| Rights Management | Copyright 2010. For further information regarding the rights to this collection, please visit: https://NOVEL.utah.edu/about/copyright |
| ARK | ark:/87278/s6gx7j0f |
| Context URL | The NANOS Annual Meeting Neuro-Ophthalmology Collection: https://novel.utah.edu/collection/NAM/toc/ |
| Setname | ehsl_novel_nam |
| ID | 181310 |
| Reference URL | https://collections.lib.utah.edu/ark:/87278/s6gx7j0f |