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Transcranial Doppler versus transthoracic echocardiography for the detection of patent foramen ovale in patients with cryptogenic cerebral ischemia: A systematic review and diagnostic test accuracy meta‐analysis |
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| Authors: | Aristeidis H. Katsanos MD Theodora Psaltopoulou MD Theodoros N. Sergentanis MD Alexandra Frogoudaki MD Agathi‐Rosa Vrettou MD Ignatios Ikonomidis MD Ioannis Paraskevaidis MD John Parissis MD Chrysa Bogiatzi MD Christina Zompola MD John Ellul MD Nikolaos Triantafyllou MD Konstantinos Voumvourakis MD Athanassios P. Kyritsis MD Sotirios Giannopoulos MD Anne W. Alexandrov PhD Andrei V. Alexandrov MD Georgios Tsivgoulis MD |
| Affiliation: | 1. Department of Neurology, University of Ioannina School of Medicine, Ioannina, Greece;2. Second Department of Neurology, Attikon University Hospital, School of Medicine, University of Athens, Athens, Greece;3. Department of Hygiene, Epidemiology, and Medical Statistics, School of Medicine, University of Athens, Athens, Greece;4. Second Department of Cardiology, Attikon University Hospital, School of Medicine, University of Athens, Athens, Greece;5. Stroke Prevention and Atherosclerosis Research Centre, Robarts Research Institute, University of Western Ontario, London, Ontario, Canada;6. Department of Neurology, School of Medicine, University of Patras, Patras, Greece;7. First Department of Neurology, Eginition Hospital, School of Medicine, University of Athens, Athens, Greece;8. Department of Neurology, University of Tennessee Health Sciences Center, Memphis, TN;9. School of Nursing, Australian Catholic University, Sydney, Australia;10. International Clinical Research Center, Department of Neurology, St Anne's University Hospital Brno, Brno, Czech Republic |
| Abstract: | Schwannomatosis is a genetic disorder characterized by the occurrence of multiple peripheral schwannomas. Segmental schwannomatosis is diagnosed when schwannomas are restricted to 1 extremity and is thought to be caused by genetic mosaicism. We studied 5 patients with segmental schwannomatosis through microstructural magnetic resonance neurography and mutation analysis of NF2, SMARCB1, and LZTR1. In 4 of 5 patients, subtle fascicular nerve lesions were detected in clinically unaffected extremities. Two patients exhibited LZTR1 germline mutations. This appears contrary to a simple concept of genetic mosaicism and suggests more complex and heterogeneous mechanisms underlying the phenotype of segmental schwannomatosis than previously thought. Ann Neurol 2016;80:625–628 |
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