Centre de Recherche de l'Institut du Cerveau et de la Moelle Epinière, INSERM UMR_S975, CNRS UMR7225, Groupe Hospitalier Pitié-Salpêtrière, AP-HP and UPMC-Sorbonne Universités, Paris, France.
J Neural Transm (Vienna). 2011 May;118(5):753-64. doi: 10.1007/s00702-011-0649-y. Epub 2011 May 4.
Sixty cases of frontotemporal lobar degeneration (FTLD) were collected over 22 years. Brain weight was negatively correlated with disease duration. The neuronal and/or glial inclusions were labeled by anti-TDP, anti-FUS or anti-TAU antibodies, respectively, in 40, 3 and 12 cases. In the FTLD-TDP group, mutation of the progranulin gene was found in four cases (FTD-GRN), with nuclear, cat eye inclusions and severe neuronal loss in CA1 and subiculum. The motor neurons were involved in 27 cases (fronto-temporal dementia with amyotrophic lateral sclerosis = FTD-ALS). Familial FTD-ALS cases lived longer than sporadic ones. In nine cases, there was no ALS, no GRN mutation (FTD-NAP). The cases in the FTD-ALS and FTD-NAP subgroups were of Sampathu type 2 (TDP-positive inclusions located mostly in cell bodies and short neurites) with the exception of five cases which belonged to type 1 (long TDP-positive neurites in the superficial layers of the cortex). All of the FTLD-FUS of this series cases were affected by neuronal intermediate filament inclusion disease (NIFID). They were young. The survival was short. In the FTLD-tau group, mutations P301P (previously not recognized as pathogenic), P301L and S305N were identified. Pick disease (n = 5) appeared as a homogeneous sporadic disorder. The current nomenclature allows the neuropathological classification of nearly all the cases of FTD. The prevalence of the different types of FTD is tightly linked to the recruitment. This series was enriched in motor neuron disease (explaining the overall predominance of type 2 TDP inclusions).
本研究收集了 22 年来 60 例额颞叶变性（FTLD）病例。脑重量与疾病持续时间呈负相关。在 40 例、3 例和 12 例病例中，神经元和/或神经胶质包涵体分别用抗 TDP、抗 FUS 或抗 Tau 抗体标记。在 FTLD-TDP 组中，发现了 4 例颗粒蛋白基因（GRN）突变（FTD-GRN），具有核、猫眼包涵体和 CA1 和 subiculum 严重神经元丢失。27 例运动神经元受累（额颞痴呆伴肌萎缩侧索硬化症= FTD-ALS）。家族性 FTD-ALS 病例的生存期长于散发性病例。在 9 例中，无 ALS，无 GRN 突变（FTD-NAP）。FTD-ALS 和 FTD-NAP 亚组的病例均为 Sampathu 2 型（TDP 阳性包涵体主要位于细胞体和短神经突），除了 5 例属于 1 型（皮质浅层长 TDP 阳性神经突）。本系列 FTLD-FUS 病例均受神经元中间丝包涵体病（NIFID）影响。他们很年轻。生存时间短。在 FTLD-tau 组中，发现了 P301P（以前不被认为是致病性的）、P301L 和 S305N 突变。Pick 病（n=5）表现为均质散发性疾病。目前的命名法允许对 FTD 的几乎所有病例进行神经病理学分类。不同类型 FTD 的患病率与招募紧密相关。本系列富含运动神经元疾病（解释了总体上 2 型 TDP 包涵体的优势）。
