Adult Niemann-Pick disease type C in France: clinical phenotypes and long-term miglustat treatment effect
Yann Nadjar
(1)
,
Ana Lucia Hütter-Moncada
(2)
,
Philippe Latour
(3)
,
Xavier Ayrignac
(4)
,
Elsa Kaphan
(5)
,
Christine Tranchant
(6, 7, 8)
,
Pascal Cintas
(9)
,
Adrian Degardin
(10)
,
Cyril Goizet
(11, 12)
,
Chloe Laurencin
(13)
,
Lionel Martzolff
(14)
,
Caroline Tilikete
(15, 16)
,
Mathieu Anheim
(17, 7, 8)
,
Bertrand Audoin
(18, 19, 20)
,
Vincent Deramecourt
(21)
,
Thierry Dubard de Gaillarbois
(22)
,
Emmanuel Roze
(1, 23)
,
Foudil Lamari
(24)
,
Marie Vanier
(25, 26)
,
Bénédicte Héron
(27, 28)
1
CHU Pitié-Salpêtrière [AP-HP]
2 Department of Pediatrics, Helios Clinic Sangerhausen, Sangerhausen
3 Neurologic/Cardiologic Diseases Unit, Lyon East Biochemistry/Molecular Biology Department, CBPE,Hospices Civils de Lyon, Lyon
4 Department of Neurology, Montpellier CHU, Gui De Chauliac Hospital, Montpellier
5 Clinical Neurosciences, Timone CHU, Marseille Hospital, Marseille
6 IGBMC - Institut de génétique et biologie moléculaire et cellulaire
7 Institute of Genetics and Molecular and Cellular Biology (IGBMC), INSERM-U964, Strasbourg University, Illkirch
8 Strasbourg Federation of Translational Medicine (FMTS), Strasbourg University, Strasbourg
9 Service Médecine physique et de réadaptation [CHU Toulouse]
10 Department of Neurology and Movement Disorders, Roger Salengro Hospital, Lille
11 Centre de Référence Neurogénétique, Service de Génétique, Hôpital Pellegrin, University Hospital of Bordeaux
12 Laboratoire MRGM, INSERM U1211, University of Bordeaux, Bordeaux
13 Department of Neurology, Pierre-Wertheimer Hospital, Civilian Hospices of Lyon, Lyon
14 Department of Internal Medicine, Hôpital Emile Muller, Mulhouse and South Alsace Regional Hospital Group, Mulhouse
15 Hôpital neurologique et neurochirurgical Pierre Wertheimer [CHU - HCL]
16 IMPACT - Integrative Multisensory Perception, Action and Cognition
17 Department of Neurology, Hautepierre Hospital, Strasbourg
18 TIMONE - Hôpital de la Timone [CHU - APHM]
19 CRMBM - Centre de résonance magnétique biologique et médicale
20 CEMEREM - Centre d'Exploration Métabolique par Résonance Magnétique [Hôpital de la Timone - APHM]
21 LilNCog - Lille Neurosciences & Cognition - U 1172
22 St André Clinic, Reims
23 ICM - Institut du Cerveau = Paris Brain Institute
24 GRC Neurométabolisme
25 INSERM U820, Lyon
26 Laboratoire Gillet-Mérieux, CBPE, Hospices Civils de Lyon, Lyon
27 Reference Centre for Lysosomal Diseases (CRML), Department of Pediatric Neurology, Paris
28 CHU Trousseau [APHP]
2 Department of Pediatrics, Helios Clinic Sangerhausen, Sangerhausen
3 Neurologic/Cardiologic Diseases Unit, Lyon East Biochemistry/Molecular Biology Department, CBPE,Hospices Civils de Lyon, Lyon
4 Department of Neurology, Montpellier CHU, Gui De Chauliac Hospital, Montpellier
5 Clinical Neurosciences, Timone CHU, Marseille Hospital, Marseille
6 IGBMC - Institut de génétique et biologie moléculaire et cellulaire
7 Institute of Genetics and Molecular and Cellular Biology (IGBMC), INSERM-U964, Strasbourg University, Illkirch
8 Strasbourg Federation of Translational Medicine (FMTS), Strasbourg University, Strasbourg
9 Service Médecine physique et de réadaptation [CHU Toulouse]
10 Department of Neurology and Movement Disorders, Roger Salengro Hospital, Lille
11 Centre de Référence Neurogénétique, Service de Génétique, Hôpital Pellegrin, University Hospital of Bordeaux
12 Laboratoire MRGM, INSERM U1211, University of Bordeaux, Bordeaux
13 Department of Neurology, Pierre-Wertheimer Hospital, Civilian Hospices of Lyon, Lyon
14 Department of Internal Medicine, Hôpital Emile Muller, Mulhouse and South Alsace Regional Hospital Group, Mulhouse
15 Hôpital neurologique et neurochirurgical Pierre Wertheimer [CHU - HCL]
16 IMPACT - Integrative Multisensory Perception, Action and Cognition
17 Department of Neurology, Hautepierre Hospital, Strasbourg
18 TIMONE - Hôpital de la Timone [CHU - APHM]
19 CRMBM - Centre de résonance magnétique biologique et médicale
20 CEMEREM - Centre d'Exploration Métabolique par Résonance Magnétique [Hôpital de la Timone - APHM]
21 LilNCog - Lille Neurosciences & Cognition - U 1172
22 St André Clinic, Reims
23 ICM - Institut du Cerveau = Paris Brain Institute
24 GRC Neurométabolisme
25 INSERM U820, Lyon
26 Laboratoire Gillet-Mérieux, CBPE, Hospices Civils de Lyon, Lyon
27 Reference Centre for Lysosomal Diseases (CRML), Department of Pediatric Neurology, Paris
28 CHU Trousseau [APHP]
Yann Nadjar
- Function : Author
- PersonId : 770454
- ORCID : 0000-0003-1466-6957
Xavier Ayrignac
- Function : Author
- PersonId : 773590
- ORCID : 0000-0003-3834-2981
- IdRef : 144729377
Elsa Kaphan
- Function : Author
- PersonId : 764711
- ORCID : 0000-0002-0155-8597
Pascal Cintas
- Function : Author
- PersonId : 775516
- ORCID : 0000-0002-0242-4849
Emmanuel Roze
- Function : Author
- PersonId : 758800
- ORCID : 0000-0002-7404-591X