دورية أكاديمية
Brain MRI features and scoring of leukodystrophy in adult-onset Krabbe disease
| العنوان: | Brain MRI features and scoring of leukodystrophy in adult-onset Krabbe disease |
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| المؤلفون: | Cousyn, Louis, Law-Ye, Bruno, Pyatigorskaya, Nadya, Debs, Rabab, Froissart, Roseline, Piraud, Monique, Federico, Antonio, Salvatore, Simona, Cerase, Alfonso, Macário, Maria, Durães, João, Kim, Seung, Adachi, Hiroshi, Audoin, Bertrand, Ayrignac, Xavier, Da, Yuwei, Henderson, Robert, La Piana, Roberta, Laule, Cornelia, Nakamagoe, Kiyotaka, Raininko, Raili, Schols, Ludger, Sirrs, Sandra, Viader, Fausto, Jastrzębski, Karol, Leclercq, Delphine, Nadjar, Yann |
| المساهمون: | CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Service de Biochimie et Biologie Moléculaire Grand Est Unité Médicale Pathologies Métaboliques, Erythrocytaires et Dépistage Périnatal, Centre de Biologie et de Pathologie Est, Hospices Civils de Lyon, Bron, Laboratoire de Biologie Tissulaire et d'ingénierie Thérapeutique UMR 5305 (LBTI), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Centre National de la Recherche Scientifique (CNRS), Università degli Studi di Siena = University of Siena (UNISI), Neuroradiology Unit, Azienda Ospedaliera Universitaria Senese, Siena, Department of Neurology, Coimbra Hospital and University Centre, Department of Neurology, College of Medicine, Hanyang University, Seoul, Division of Neurology, Hyogo Prefectural Amagasaki General Medical Center, Hyogo, Neurologie, maladies neuro-musculaires Hôpital de la Timone - APHM, Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)-Hôpital de la Timone CHU - APHM (TIMONE), Centre de résonance magnétique biologique et médicale (CRMBM), Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)-Centre National de la Recherche Scientifique (CNRS), Centre d'Exploration Métabolique par Résonance Magnétique Hôpital de la Timone - APHM (CEMEREM), Hôpital de la Timone CHU - APHM (TIMONE)-Centre de résonance magnétique biologique et médicale (CRMBM), Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)-Centre National de la Recherche Scientifique (CNRS)-Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)-Centre National de la Recherche Scientifique (CNRS), Department of Neurology, University Hospital of Montpellier, Department of Neurology, Xuan Wu Hospital, Capital Medical University, Beijing, Department of Neurology, Royal Brisbane Hospital, Brisbane, Laboratory of Neurogenetics of Motion and Department of Neuroradiology, Montréal Neurological Institute and Hospital, McGill University, Montréal, University of British Columbia (UBC), University of British Columbia Vancouver, Department of Neurology, Division of Clinical Medicine, Faculty of Medicine, University of Tsukuba, Ibaraki, Uppsala University, Department of Neurology and Hertie-Institute for Clinical Brain Research, Eberhard-Karls-University, German Center of Neurodegenerative Diseases (DZNE), Tübingen, Department of Neurology, Caen-Normandie University Hospital, Caen, Inserm U1077, EPHE, Caen-Normandie University, Caen, Department of Neurology and Stroke, Medical University of Lodz |
| المصدر: | ISSN: 0028-3878. |
| بيانات النشر: | HAL CCSD American Academy of Neurology |
| سنة النشر: | 2019 |
| المجموعة: | HAL Lyon 1 (University Claude Bernard Lyon 1) |
| مصطلحات موضوعية: | [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology |
| الوصف: | International audience ; Objective To perform a systematic analysis and scoring of brain MRI white matter hyperintensities (WMH) in adult-onset Krabbe disease. Methods We retrospectively collected basic clinical data and the first available brain MRI from patients with confirmed Krabbe disease with first clinical manifestations beyond 10 years of age. Data were obtained from our reference center for lysosomal diseases (n = 6) and from contacted authors of published articles describing patients with adult-onset Krabbe disease (n = 15). T2-weighted fluid-attenuated inversion recovery images of each patient were analyzed and scored using a radiologic score of WMH in a single center. Results The corticospinal tract was always affected by WMH (100% of patients), however, with some distinctions along the tract: the precentral gyrus (100%), corona radiata (95%), and posterior internal capsule (81%) were highly abnormal, whereas the mesencephalon (57%), pons (52%), and medulla oblongata (5%) were less affected. WMH were also frequently present in the posterior lateral periventricular white matter (95%), optic radiations (86%), postcentral gyrus (71%), medial lemniscus (62%), and corpus callosum, especially in the isthmus (71%), whereas the genu was always normal. A few patients did not have the classical MRI pattern but extensive hyperintensities (n = 3), or patchy distribution of hyperintensities mimicking an acquired etiology (n = 2), or very subtle hyperintensities of the corticospinal tract (n = 1). Conclusions We specified the main locations of WMH, which were observed in the earliest stages of the disease and were also present in patients with atypical MRI pattern, highlighting the importance of radiologic features to guide the diagnosis. |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| العلاقة: | hal-03540772; https://amu.hal.science/hal-03540772Test |
| DOI: | 10.1212/WNL.0000000000007943 |
| الإتاحة: | https://doi.org/10.1212/WNL.0000000000007943Test https://amu.hal.science/hal-03540772Test |
| رقم الانضمام: | edsbas.DA9BBEEA |
| قاعدة البيانات: | BASE |
| DOI: | 10.1212/WNL.0000000000007943 |
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