Brain MRI features and scoring of leukodystrophy in adult-onset Krabbe disease
Louis Cousyn
(1)
,
Bruno Law-Ye
(1)
,
Nadya Pyatigorskaya
(1)
,
Rabab Debs
(1)
,
Roseline Froissart
(2, 3)
,
Monique Piraud
(2)
,
Antonio Federico
(4)
,
Simona Salvatore
(4)
,
Alfonso Cerase
(5)
,
Maria Macário
(6)
,
João Durães
(6)
,
Seung Kim
(7)
,
Hiroshi Adachi
(8)
,
Bertrand Audoin
(9, 10, 11)
,
Xavier Ayrignac
(12)
,
Yuwei Da
(13)
,
Robert Henderson
(14)
,
Roberta La Piana
(15)
,
Cornelia Laule
(16, 16, 16, 16)
,
Kiyotaka Nakamagoe
(17)
,
Raili Raininko
(18)
,
Ludger Schols
(19, 20)
,
Sandra Sirrs
(16)
,
Fausto Viader
(21, 22)
,
Karol Jastrzębski
(23)
,
Delphine Leclercq
(1)
,
Yann Nadjar
(1)
1
CHU Pitié-Salpêtrière [AP-HP]
2 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
3 LBTI - Laboratoire de Biologie Tissulaire et d'ingénierie Thérapeutique
4 UNISI - Università degli Studi di Siena = University of Siena
5 Neuroradiology Unit, Azienda Ospedaliera Universitaria Senese, Siena
6 Department of Neurology, Coimbra Hospital and University Centre
7 Department of Neurology, College of Medicine, Hanyang University, Seoul
8 Division of Neurology, Hyogo Prefectural Amagasaki General Medical Center, Hyogo
9 Neurologie, maladies neuro-musculaires [Hôpital de la Timone - APHM]
10 CRMBM - Centre de résonance magnétique biologique et médicale
11 CEMEREM - Centre d'Exploration Métabolique par Résonance Magnétique [Hôpital de la Timone - APHM]
12 Department of Neurology, University Hospital of Montpellier
13 Department of Neurology, Xuan Wu Hospital, Capital Medical University, Beijing,
14 Department of Neurology, Royal Brisbane Hospital, Brisbane
15 McGill University = Université McGill [Montréal, Canada]
16 UBC - University of British Columbia [Canada]
17 Université de Tsukuba = University of Tsukuba
18 Uppsala University
19 Department of Neurology and Hertie-Institute for Clinical Brain Research, Eberhard-Karls-University
20 German Center of Neurodegenerative Diseases (DZNE), Tübingen
21 Department of Neurology, Caen-Normandie University Hospital, Caen
22 Inserm U1077, EPHE, Caen-Normandie University, Caen
23 Department of Neurology and Stroke, Medical University of Lodz
2 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
3 LBTI - Laboratoire de Biologie Tissulaire et d'ingénierie Thérapeutique
4 UNISI - Università degli Studi di Siena = University of Siena
5 Neuroradiology Unit, Azienda Ospedaliera Universitaria Senese, Siena
6 Department of Neurology, Coimbra Hospital and University Centre
7 Department of Neurology, College of Medicine, Hanyang University, Seoul
8 Division of Neurology, Hyogo Prefectural Amagasaki General Medical Center, Hyogo
9 Neurologie, maladies neuro-musculaires [Hôpital de la Timone - APHM]
10 CRMBM - Centre de résonance magnétique biologique et médicale
11 CEMEREM - Centre d'Exploration Métabolique par Résonance Magnétique [Hôpital de la Timone - APHM]
12 Department of Neurology, University Hospital of Montpellier
13 Department of Neurology, Xuan Wu Hospital, Capital Medical University, Beijing,
14 Department of Neurology, Royal Brisbane Hospital, Brisbane
15 McGill University = Université McGill [Montréal, Canada]
16 UBC - University of British Columbia [Canada]
17 Université de Tsukuba = University of Tsukuba
18 Uppsala University
19 Department of Neurology and Hertie-Institute for Clinical Brain Research, Eberhard-Karls-University
20 German Center of Neurodegenerative Diseases (DZNE), Tübingen
21 Department of Neurology, Caen-Normandie University Hospital, Caen
22 Inserm U1077, EPHE, Caen-Normandie University, Caen
23 Department of Neurology and Stroke, Medical University of Lodz
Louis Cousyn
- Fonction : Auteur
- PersonId : 1102358
- ORCID : 0000-0003-1407-5575
- IdRef : 234111313
Bruno Law-Ye
- Fonction : Auteur
- PersonId : 776325
- ORCID : 0000-0003-4247-9892
Nadya Pyatigorskaya
- Fonction : Auteur
- PersonId : 778010
- ORCID : 0000-0002-2070-1299
- IdRef : 13648574X
Roseline Froissart
- Fonction : Auteur
Maria Macário
- Fonction : Auteur
- PersonId : 821131
- ORCID : 0000-0001-9168-533X
João Durães
- Fonction : Auteur
- PersonId : 821132
- ORCID : 0000-0001-9671-593X
Xavier Ayrignac
- Fonction : Auteur
- PersonId : 773590
- ORCID : 0000-0003-3834-2981
- IdRef : 144729377
Kiyotaka Nakamagoe
- Fonction : Auteur
- PersonId : 821133
- ORCID : 0000-0003-4025-5780
Karol Jastrzębski
- Fonction : Auteur
- PersonId : 821134
- ORCID : 0000-0002-8651-8198
Delphine Leclercq
- Fonction : Auteur
- PersonId : 768023
- ORCID : 0000-0003-1110-3833
Yann Nadjar
- Fonction : Auteur
- PersonId : 770454
- ORCID : 0000-0003-1466-6957
Résumé
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.