Solène Ronsin1, Salem Hannoun2, Stéphane Thobois3, Philippe Petiot4, Alain Vighetto5, François Cotton6, Caroline Tilikete7. 1. Hospices Civils de Lyon, Neurology D and Neuro-Ophthalmology Unit, Hôpital Neurologique Pierre Wertheimer, Bron, F-69677, France; Université de Lyon, Lyon 1 University, Lyon, F-69373, France. 2. CREATIS, INSERM U1206 & CNRS UMR 5220, Lyon, F-69000, France; Nehme and Therese Tohme Multiple Sclerosis Center, Faculty of Medicine, American University of Beirut, Beirut, 1107 2020, Lebanon. 3. Université de Lyon, Lyon 1 University, Lyon, F-69373, France; Hospices Civils de Lyon, Neurology C, Hôpital Neurologique Pierre Wertheimer, Bron, F-69677, France; Centre de Neurosciences Cognitives de Lyon, CNRS UMR 5229, Bron F-69500, France. 4. Hospices Civils de Lyon, Explorations Fonctionnelles Neurologiques, Hôpital de la Croix Rousse, Lyon, F-69004, France. 5. Hospices Civils de Lyon, Neurology D and Neuro-Ophthalmology Unit, Hôpital Neurologique Pierre Wertheimer, Bron, F-69677, France; Université de Lyon, Lyon 1 University, Lyon, F-69373, France; Lyon Neuroscience Research Center, INSERM U1028 CNRS UMR5292, Team ImpAct, Bron, F-69676, France. 6. Université de Lyon, Lyon 1 University, Lyon, F-69373, France; CREATIS, INSERM U1206 & CNRS UMR 5220, Lyon, F-69000, France; Hospices Civils de Lyon, Centre Hospitalier Lyon Sud, Service de Radiologie and Laboratoire d'Anatomie de Rockefeller, Lyon, F-69000, France. Electronic address: francois.cotton@chu-lyon.fr. 7. Hospices Civils de Lyon, Neurology D and Neuro-Ophthalmology Unit, Hôpital Neurologique Pierre Wertheimer, Bron, F-69677, France; Université de Lyon, Lyon 1 University, Lyon, F-69373, France; Lyon Neuroscience Research Center, INSERM U1028 CNRS UMR5292, Team ImpAct, Bron, F-69676, France. Electronic address: caroline.tilikete@inserm.fr.
Abstract
PURPOSE: Evaluate the specificity and sensitivity of disappearance of susceptibility weighted imaging (SWI) dentate nuclei (DN) hypointensity in oculomotor apraxia patients (AOA). METHOD: In this prospective study, 27 patients with autosomal genetic ataxia (AOA (n = 11), Friedreich ataxia and ataxia with vitamin E deficit (n = 4), and dominant genetic ataxia (n = 12)) were included along with fifteen healthy controls. MRIs were qualitatively classified for the presence or absence of DN hypointensity on FLAIR and SWI sequences. The MRIs were then quantitatively studied, with measurement of a ratio of DN over brainstem white matter signal intensity through manual delineation. The institutional review board approved this study, and written informed consent was obtained. In the cross-sectional analysis, the Mann-Whitney test was applied. RESULTS: Qualitatively, the eleven AOA patients presented absence of both DN SWI and FLAIR hyposignals; three dominant genetic ataxia patients had moderate SWI DN hyposignal and absent FLAIR hyposignal; the thirteen remaining subjects presented normal SWI and FLAIR DN hyposignal. Absence of DN SWI hypointensity was 100% sensitive and specific to AOA. Quantitative signal intensity ratio (mean ± standard deviation) of the AOA group (98·96 ± 5·37%) was significantly higher than in control subjects group (76.40 ± 8.34%; p < 0.001), dominant genetic ataxia group (81·15 ± 9·94%; p < 0·001), and Friedreich ataxia and ataxia with vitamin E deficit group (87·56 ± 2·78%; p < 0·02). CONCLUSION: This small study shows that loss of the normal hypointensity in the dentate nucleus on both SWI and FLAIR imaging at 3 T is a highly sensitive and specific biomarker for AOA.
PURPOSE: Evaluate the specificity and sensitivity of disappearance of susceptibility weighted imaging (SWI) dentate nuclei (DN) hypointensity in oculomotor apraxiapatients (AOA). METHOD: In this prospective study, 27 patients with autosomal genetic ataxia (AOA (n = 11), Friedreich ataxia and ataxia with vitamin E deficit (n = 4), and dominant genetic ataxia (n = 12)) were included along with fifteen healthy controls. MRIs were qualitatively classified for the presence or absence of DN hypointensity on FLAIR and SWI sequences. The MRIs were then quantitatively studied, with measurement of a ratio of DN over brainstem white matter signal intensity through manual delineation. The institutional review board approved this study, and written informed consent was obtained. In the cross-sectional analysis, the Mann-Whitney test was applied. RESULTS: Qualitatively, the eleven AOA patients presented absence of both DN SWI and FLAIR hyposignals; three dominant genetic ataxiapatients had moderate SWI DN hyposignal and absent FLAIR hyposignal; the thirteen remaining subjects presented normal SWI and FLAIR DN hyposignal. Absence of DN SWI hypointensity was 100% sensitive and specific to AOA. Quantitative signal intensity ratio (mean ± standard deviation) of the AOA group (98·96 ± 5·37%) was significantly higher than in control subjects group (76.40 ± 8.34%; p < 0.001), dominant genetic ataxia group (81·15 ± 9·94%; p < 0·001), and Friedreich ataxia and ataxia with vitamin E deficit group (87·56 ± 2·78%; p < 0·02). CONCLUSION: This small study shows that loss of the normal hypointensity in the dentate nucleus on both SWI and FLAIR imaging at 3 T is a highly sensitive and specific biomarker for AOA.
Authors: Marie Beaudin; Mario Manto; Jeremy D Schmahmann; Massimo Pandolfo; Nicolas Dupre Journal: Nat Rev Neurol Date: 2022-03-24 Impact factor: 42.937
Authors: Sirio Cocozza; Giuseppe Pontillo; Giovanna De Michele; Martina Di Stasi; Elvira Guerriero; Teresa Perillo; Chiara Pane; Anna De Rosa; Lorenzo Ugga; Arturo Brunetti Journal: Neuroradiology Date: 2021-03-17 Impact factor: 2.804
Authors: Tanja Schmitz-Hübsch; Silke Lux; Peter Bauer; Alexander U Brandt; Elena Schlapakow; Susanne Greschus; Michael Scheel; Hanna Gärtner; Mehmet E Kirlangic; Vincent Gras; Dagmar Timmann; Matthis Synofzik; Alejandro Giorgetti; Paolo Carloni; Jon N Shah; Ludger Schöls; Ute Kopp; Lisa Bußenius; Timm Oberwahrenbrock; Hanna Zimmermann; Caspar Pfueller; Ella-Maria Kadas; Maria Rönnefarth; Anne-Sophie Grosch; Matthias Endres; Katrin Amunts; Friedemann Paul; Sarah Doss; Martina Minnerop Journal: Ann Clin Transl Neurol Date: 2021-03-19 Impact factor: 4.511