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Journal Articles Neurology Year : 2019

Brain MRI features and scoring of leukodystrophy in adult-onset Krabbe disease

1 From the Department of Neurology, Reference Center for Lysosomal Diseases, UF Neuro-Genetics and Metabolism Pitié-Salpêtrière Hospital, Paris
2 Department of Neuroradiology Pitié-Salpêtrière Hospital, Paris
3 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
4 LBTI - Laboratoire de Biologie Tissulaire et d'ingénierie Thérapeutique UMR 5305
5 UNISI - Università degli Studi di Siena = University of Siena
6 Neuroradiology Unit, Azienda Ospedaliera Universitaria Senese, Siena
7 Department of Neurology, Coimbra Hospital and University Centre
8 Department of Neurology, College of Medicine, Hanyang University, Seoul
9 Division of Neurology, Hyogo Prefectural Amagasaki General Medical Center, Hyogo
10 Department of Neurology, La Timone Hospital; Aix-Marseille University
11 CRMBM - Centre de résonance magnétique biologique et médicale
12 CEMEREM - Centre d'Exploration Métabolique par Résonance Magnétique [Hôpital de la Timone - AP-HM]
13 Department of Neurology, University Hospital of Montpellier
14 Department of Neurology, Xuan Wu Hospital, Capital Medical University, Beijing,
15 Department of Neurology, Royal Brisbane Hospital, Brisbane
16 Laboratory of Neurogenetics of Motion and Department of Neuroradiology, Montréal Neurological Institute and Hospital, McGill University, Montréal
17 UBC - University of British Columbia
18 International Collaboration on Repair Discoveries (ICORD), University of British Columbia, Vancouver
19 Department of Neurology, Division of Clinical Medicine, Faculty of Medicine, University of Tsukuba, Ibaraki
20 Uppsala University
21 Department of Neurology and Hertie-Institute for Clinical Brain Research, Eberhard-Karls-University
22 German Center of Neurodegenerative Diseases (DZNE), Tübingen
23 Department of Neurology, Caen-Normandie University Hospital, Caen
24 Inserm U1077, EPHE, Caen-Normandie University, Caen
25 Department of Neurology and Stroke, Medical University of Lodz


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.
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Dates and versions

hal-03540772 , version 1 (24-01-2022)



Louis Cousyn, Bruno Law-Ye, Nadya Pyatigorskaya, Rabab Debs, Roseline Froissart, et al.. Brain MRI features and scoring of leukodystrophy in adult-onset Krabbe disease. Neurology, 2019, 93 (7), pp.e647-e652. ⟨10.1212/WNL.0000000000007943⟩. ⟨hal-03540772⟩
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