Takeda Takahiro, Seilhean Danielle, Le Ber Isabelle, Millecamps Stéphanie, Sazdovitch Véronique, Kitagawa Kazuo, Uchihara Toshiki, Duyckaerts Charles
Service de Neuropathologie, Laboratoire Raymond Escourolle, AP-HP, Hôpitaux Universitaires La Pitié Salpêtrière-Charles Foix, Hôpital de la Pitié-Salpêtrière, Paris, France; Institut du Cerveau et de la Moelle Épinière (ICM), INSERM U1127, CNRS UMR 7225, Sorbonne Universités, Université Pierre et Marie Curie, Univ Paris 06, UPMC-P6 UMR S 1127, Hôpital de la Pitié-Salpêtrière, Paris, France; Département de Neurologie, AP-HP, Hôpitaux Universitaires La Pitié Salpêtrière-Charles Foix, Paris, France; Centre de Référence des Démences Rares, AP-HP, Hôpitaux Universitaires La Pitié Salpêtrière-Charles Foix, Paris, France; Department of Neurology, Tokyo Women's Medical University, Tokyo, Japan; and Laboratory of Structural Neuropathology, Tokyo Metropolitan Institute of Medical Science, Tokyo, Japan.
J Neuropathol Exp Neurol. 2017 Sep 1;76(9):800-812. doi: 10.1093/jnen/nlx063.
TDP-43-positive inclusions are present in the amygdala in frontotemporal lobar degeneration (FTLD) and motor neuron disease (MND) including amyotrophic lateral sclerosis. Behavioral abnormalities, one of the chief symptoms of FTLD, could be, at least partly, related to amygdala pathology. We examined TDP-43 inclusions in the amygdala of patients with sporadic FTLD/MND (sFTLD/MND), FTLD/MND with mutation of the C9ORF72 (FTLD/MND-C9) and FTLD with mutation of the progranulin (FTLD-GRN). TDP-43 inclusions were common in each one of these subtypes, which can otherwise be distinguished on topographical and genetic grounds. Conventional and immunological stainings were performed and we quantified the numerical density of inclusions on a regional basis. TDP-43 inclusions in amygdala could be seen in 10 out of 26 sFTLD/MND cases, 5 out of 9 FTLD/MND-C9 cases, and all 4 FTLD-GRN cases. Their numerical density was lower in FTLD/MND-C9 than in sFTLD/MND and FTLD-GRN. TDP-43 inclusions were more numerous in the ventral region of the basolateral nucleus group in all subtypes. This contrast was apparent in sporadic and C9-mutated FTLD/MND, while it was less evident in FTLD-GRN. Such differences in subregional involvement of amygdala may be related to the region-specific neuronal connections that are differentially affected in FTLD/MND and FTLD-GRN.
在额颞叶变性（FTLD）和运动神经元病（MND，包括肌萎缩侧索硬化）中，杏仁核存在TDP - 43阳性包涵体。行为异常是FTLD的主要症状之一，可能至少部分与杏仁核病理有关。我们检查了散发性FTLD/MND（sFTLD/MND）、携带C9ORF72突变的FTLD/MND（FTLD/MND - C9）以及携带原颗粒蛋白突变的FTLD（FTLD - GRN）患者杏仁核中的TDP - 43包涵体。TDP - 43包涵体在这些亚型中均很常见，而这些亚型在地形学和遗传学基础上是可以区分的。我们进行了常规染色和免疫染色，并在区域基础上对包涵体的数值密度进行了量化。在26例sFTLD/MND病例中有10例、9例FTLD/MND - C9病例中有5例以及所有4例FTLD - GRN病例的杏仁核中均可观察到TDP - 43包涵体。其数值密度在FTLD/MND - C9中低于sFTLD/MND和FTLD - GRN。在所有亚型中，基底外侧核群腹侧区域的TDP - 43包涵体数量更多。这种差异在散发性和C9突变的FTLD/MND中很明显，而在FTLD - GRN中不太明显。杏仁核亚区域受累的这种差异可能与FTLD/MND和FTLD - GRN中受到不同影响的区域特异性神经元连接有关。
