Unusual association of amyotrophic lateral sclerosis and myasthenia gravis: A dysregulation of the adaptive immune system?
Myasthenia gravis is an autoimmune disorder affecting neuromuscular junctions that has been associated with a small increased risk of amyotrophic lateral sclerosis (ALS). Here, we describe a retrospective series of seven cases with a concomitant diagnosis of ALS and myasthenia gravis, collected among the 18 French reference centers for ALS in a twelve year period. After careful review, only six patients strictly met the diagnostic criteria for both ALS and myasthenia gravis. In these patients, limb onset of ALS was reported in five (83%) cases. Localization of myasthenia gravis initial symptoms was ocular in three (50%) cases, generalized in two (33%) and bulbar in one (17%). Median delay between onset of the two conditions was 19 months (6-319 months). Anti-acetylcholine receptor antibodies testing was positive in all cases. All patients were treated with riluzole and one had an associated immune-mediated disease. In the one last ALS case, the final diagnosis was false-positivity for anti-acetylcholine receptor antibodies. The co-occurrence of ALS and myasthenia gravis is rare and requires strict diagnostic criteria. Its demonstration needs thoughtful interpretation of electrophysiological results and exclusion of false positivity for myasthenia gravis antibody testing in some ALS cases. This association may be triggered by a dysfunction of adaptive immunity.
APHP, Hôpital Pitié-Salpêtrière, Département des Maladies du Système Nerveux, Centre référent SLA, Paris, France.
Maria
M
Del Mar Amador
Service d'Electroneuromyographie et Service de Neurologie C, Centre Sclérose Latérale Amyotrophique de Lyon, Hôpital Neurologique Pierre Wertheimer, Hospices Civils de Lyon, Lyon, France.
Nadia
N
Vandenberghe
Service d'Electroneuromyographie et Service de Neurologie C, Centre Sclérose Latérale Amyotrophique de Lyon, Hôpital Neurologique Pierre Wertheimer, Hospices Civils de Lyon, Lyon, France.
Nawel
N
Berhoune
CHU de Saint-Étienne, hôpital Nord, service de neurologie, Saint-Étienne, France; CHU de Saint-Étienne, centre SLA et maladies du motoneurone, France.
Jean-Philippe
JP
Camdessanché
Centre de référence maladies neuromusculaires et SLA, pôle neurosciences cliniques, hôpital l'Archet, CHU de Nice, France.
Sophie
S
Gronier
Centre de référence maladies neuromusculaires et SLA, pôle neurosciences cliniques, hôpital l'Archet, CHU de Nice, France.
Emilien
E
Delmont
Centre de référence maladies neuromusculaires et SLA, pôle neurosciences cliniques, hôpital l'Archet, CHU de Nice, France.
Claude
C
Desnuelle
Centre SLA, Unité de neurophysiologie clinique, CHU Toulouse Purpan, France.
Pascal
P
Cintas
Centre SLA, Service de Neurologie, Hôpital Central, Nancy, France.
Sophie
S
Pittion
Service de Neurologie, Hôpital Central, Nancy, France.
Sarah
S
Louis
APHP, Hôpital Pitié-Salpêtrière, Unité de Réanimation Neurologique, Neurologie 1, Paris, France.
Sophie
S
Demeret
APHP, Hôpital Pitié-Salpêtrière, Département des Maladies du Système Nerveux, Centre référent SLA, Paris, France.
Timothée
T
Lenglet
APHP, Hôpital Pitié-Salpêtrière, Département des Maladies du Système Nerveux, Centre référent SLA, Paris, France.
Vincent
V
Meininger
APHP, Hôpital Pitié-Salpêtrière, Département des Maladies du Système Nerveux, Centre référent SLA, Paris, France.
François
F
Salachas
APHP, Hôpital Pitié-Salpêtrière, Département des Maladies du Système Nerveux, Centre référent SLA, Paris, France; Sorbonne Universités, UPMC Univ Paris 06, CNRS, INSERM, Laboratoire d'Imagerie Biomédicale, F-75013, Paris, France.
Pierre-François
PF
Pradat
APHP, Hôpital Pitié-Salpêtrière, Département des Maladies du Système Nerveux, Centre référent SLA, Paris, France; Inserm U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, F-75013, Paris, France. Electronic address: gaelle.bruneteau@psl.aphp.fr.
Gaëlle
G
Bruneteau
D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000690:Amyotrophic Lateral Sclerosis / Q000097:blood / Q000150:complications* / Q000276:immunology*; D001323:Autoantibodies / Q000097:blood; D015415:Biomarkers / Q000097:blood; D005260:Female; D006801:Humans; D008297:Male; D009157:Myasthenia Gravis / Q000097:blood / Q000150:complications* / Q000276:immunology*; D011950:Receptors, Cholinergic / Q000276:immunology; D012189:Retrospective Studies
D001323:Autoantibodies; D015415:Biomarkers; D011950:Receptors, Cholinergic
Amyotrophic lateral sclerosis; Immunology; Myasthenia gravis; Neuromuscular transmission