Campetella Lucia, Smolik Krzysztof, Farina Antonio, Joubert Bastien, Muñiz-Castrillo Sergio, Desestret Virginie, Honnorat Jérôme
French Reference Center for Paraneoplastic Neurological Syndromes and Autoimmune Encephalitis, Hospices Civils de Lyon, 59 Boulevard Pinel, Bron Cedex, 69677, Lyon, France.
MeLiS - UCBL-CNRS UMR 5284 - INSERM U1314, Université Claude Bernard Lyon 1, Lyon, France.
J Neurol. 2025 Apr 24;272(5):359. doi: 10.1007/s00415-025-13094-0.
The spectrum of autoimmune encephalitis (AE) is expanding to atypical clinical presentations that can mimic neurodegenerative disorders. Among the autoantibodies most frequently associated with manifestations mimicking neurodegenerative disorders-such as dementia, parkinsonism, ataxia and motor neuron disease-IgLON5-, LGI1- and CASPR2-antibodies, predominantly of the IgG4 subclass and associated with specific HLA haplotypes, are the most common. Since these forms of autoimmune encephalitis often lack inflammatory findings in cerebrospinal fluid or magnetic resonance imaging, recognizing clinical 'red flags' suggestive of an autoimmune etiology is crucial for accurate diagnosis and timely initiation of immunotherapy. Interestingly, in these forms of autoimmune encephalitis, both inflammatory and neurodegenerative disease mechanisms may be involved. The neurodegenerative component may result directly from antibody effects (e.g., tau deposition in IgLON5-antibody disease) or arise through other mechanisms (e.g., seizures or exacerbation of pre-existing pathology). Moreover, neuroinflammation has recently emerged as a key contributor to primary neurodegenerative disorders. For instance, microglial activation promotes tau pathology propagation, as observed in Alzheimer's disease and other primary neurodegenerative disorders. While the precise mechanisms linking inflammation and neurodegeneration remain to be fully understood, further research into the interplay between autoimmunity and neurodegeneration may enhance our understanding of disease mechanisms and expand therapeutic opportunities in both autoimmune and neurodegenerative neurological disorders.
自身免疫性脑炎(AE)的范围正在扩大至可模仿神经退行性疾病的非典型临床表现。在最常与模仿神经退行性疾病表现(如痴呆、帕金森症、共济失调和运动神经元病)相关的自身抗体中,IgLON5抗体、LGI1抗体和CASPR2抗体最为常见,这些抗体主要为IgG4亚类,并与特定的HLA单倍型相关。由于这些自身免疫性脑炎形式在脑脊液或磁共振成像中往往缺乏炎症表现,识别提示自身免疫病因的临床“警示信号”对于准确诊断和及时启动免疫治疗至关重要。有趣的是,在这些自身免疫性脑炎形式中,炎症和神经退行性疾病机制可能都涉及。神经退行性成分可能直接由抗体作用导致(如IgLON5抗体疾病中的tau沉积)或通过其他机制产生(如癫痫发作或既往病理状况的加重)。此外,神经炎症最近已成为原发性神经退行性疾病的关键因素。例如,在阿尔茨海默病和其他原发性神经退行性疾病中观察到,小胶质细胞激活促进tau病理传播。虽然炎症与神经退行性变之间的确切机制仍有待充分了解,但对自身免疫与神经退行性变之间相互作用的进一步研究可能会增进我们对疾病机制的理解,并扩大自身免疫性和神经退行性神经系统疾病的治疗机会。