MRI findings in SANDO variety of the ataxia-neuropathy spectrum with a novel mutation in POLG (c.3287G>T): A case report |
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| Institution: | 1. Department of Neurology, Hospital Civil de Guadalajara “Fray Antonio Alcalde”, Hospital 278. Guadalajara, Jalisco 44280, Mexico;2. Department of Neurosciences (Dr. Ruiz-Sandoval), Centro Universitario de Ciencias de la Salud (CUCS), Universidad de Guadalajara, Mexico;1. Department of Neurosciences, King Faisal Specialist Hospital and Research Centre (KFSHRC), Saudi Arabia;2. Department of Genetics, Senior Scientist and Head, Cognitive Genetics Unit, KFSHRC, MBC 03, Riyadh 11211, Saudi Arabia;3. Department of Clinical Pharmacy, College of Pharmacy, King Saud University, Riyadh, Saudi Arabia;4. Department of Biostatistics and Scientific Computing, KFSHRC, Riyadh, Saudi Arabia;5. College of Medicine, Al Faisal University, Riyadh, Saudi Arabia;1. Institute of Human Genetics, Center for Molecular Medicine Cologne (CMMC), Institute of Genetics, and Center for Rare Diseases Cologne, University of Cologne, Cologne, Germany;2. Molecular and Clinical Sciences Institute, St. George''s University of London, Cranmer Terrace, London SW17 0RE, UK;3. Department of Neuromuscular Diseases, UCL Institute of Neurology, Queen Square, London, WC1N 3BG, UK;4. Department of Neurology and Neurosurgery, Institute of Emergency Medicine, Toma Ciorb? 1, 2052 Chisinau, Republic of Moldova;5. Genetics and Genomic Medicine, Great Ormond Street Institute of Child Health, University College London, London WC1E 6BT, UK;6. Neurology Dept., Ghaem Hospital, Medical School, Mashhad University of Medical Sciences, Mashhad, Iran;7. Department of Molecular Genetics, Next Generation Genetic Polyclinic, Mashhad 009851, Iran;8. Cologne Center for Genomics (CCG), University of Cologne, Cologne, Germany;1. Department of Neurology, Shandong Provincial Hospital Affiliated to Shandong University, Jinan City, China;2. Department of Pathology, Shandong Medical College, Jinan City, China;1. APHP, Centre de référence des maladies neuromusculaires, Institut de Myologie, Sorbonne Université, APHP, Hôpital Pitié-Salpêtrière; Paris, France;2. UF de neurogénétique héreditaire (UF 34427), Centre de Biologie et Pathologie Est - Service de Biochimie Biologie Moléculaire Grande Est; Hospices Civils, Lyon, France;3. Service de neurologie, CHU Bordeaux, Bordeaux, France;4. Service de neuropediatrie, APHP, Hôpital Robert Debré, Paris, France;5. Service de neurologie, CHU Lille, Lille, France;1. Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany;2. Institute of Human Genetics, Helmholtz Center Munich, Munich, Germany;3. Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany;4. Institute of Human Genetics, Technical University Munich, Munich, Germany;5. Department of Diagnostic and Interventional Neuroradiology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany;6. Department of Pediatrics, Paracelsus Medical University Salzburg, Salzburg, Austria |
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| Abstract: | Sensory ataxic neuropathy with dysarthria and ophthalmoparesis (SANDO) is an adult onset sensory ataxic neuropathy, dysarthria and chronic progressive external ophthalmoplegia associated with mutations in POLG1. We report a 38-year-old woman with a history of progressive gait instability and bilateral ptosis. Neurological examination found ataxia, ophthalmoplegia, and dysarthria. MRI showed bilateral thalamic and cerebellar lesions. A POLG related disorder was suspected and after DNA sequencing a SANDO with a novel mutation in POLG was confirmed. |
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