Cagnin Annachiara, Mariotto Sara, Fiorini Michele, Gaule Marina, Bonetto Nicola, Tagliapietra Matteo, Buratti Emanuele, Zanusso Gianluigi, Ferrari Sergio, Monaco Salvatore
Department of Neurosciences, University of Padua, Padua, Italy.
Department of Neurosciences, Biomedicine and Movement Sciences, University of Verona, Verona, Italy.
J Alzheimers Dis. 2017;59(1):13-20. doi: 10.3233/JAD-170189.
A novel neuronal tauopathy, mainly confined to hypothalamus and brainstem tegmentum, has recently been reported in patients with autoantibodies to the neuronal cell-adhesion molecule IgLON5. We describe a patient with anti-IgLON5 syndrome, who presented with dysautonomia and sleep disorder, followed by subacute dementia. Postmortem brain examination disclosed neuronal tau pathology prevailing in the hippocampus, amygdala, and locus coeruleus, in addition to microglial/neuronal TDP-43 pathology, with overexpression of aberrantly phosphorylated forms and neurotoxic truncated fragments, in basal ganglia, nucleus basalis, thalamus, and midbrain. These findings suggest that neurodegeneration in anti-IgLON5 syndrome might also occur via a microglia-triggered non-cell autonomous pathway.
最近有报道称，在患有针对神经元细胞粘附分子IgLON5自身抗体的患者中出现了一种新型神经元tau蛋白病，主要局限于下丘脑和脑干被盖区。我们描述了一名患有抗IgLON5综合征的患者，该患者最初表现为自主神经功能障碍和睡眠障碍，随后出现亚急性痴呆。尸检脑部检查发现，除了小胶质细胞/神经元TDP-43病理改变外，海马体、杏仁核和蓝斑核中普遍存在神经元tau蛋白病理改变，在基底神经节、基底核、丘脑和中脑还存在异常磷酸化形式和神经毒性截短片段的过度表达。这些发现表明，抗IgLON5综合征中的神经退行性变也可能通过小胶质细胞触发非细胞自主途径发生。
