编码TDP-43的基因TARDBP的罕见突变导致ALS和FTLD的显性遗传形式,这表明TDP-43功能障碍会导致神经变性,以及聚集体TDP-43病理学的程度与神经元丢失相关。由TDP-43聚集导致的疾病机制与TDP-43在细胞核中的相互作用的丧失和在细胞质中的异常相互作...
作为FTLD的一种亚型,伴有TDP-43阳性包涵体的FTLD(FTLD-TDP)的特点是具有某些临床症状和病理神经元包涵体,这种TDP-43阳性包含物可通过TAR DNA结合蛋白(TDP-43)免疫反应加以检测。 根据TDP-43的分布和形态,FTLD-TDP可分为5个亚型:A型FTLD-TDP、B型FTLD-TDP、C型FTLD-TDP、D型FTLD-TDP和E型FTLD-TDP,这些亚型与潜...
03:52 Nature—科学家发现NPTX2是ALS/FTLD中介导TDP-43神经毒性的关键因子 01:38 Cell Stem Cell—新冠病毒感染可以引起神经细胞衰老 02:00 Lancet Neurol—每天口服1粒阿托吉泮,就可以预防偏头痛的发作 02:40 Nat Neurosci—帕金森病研究重磅:科学家揭示了介导PD患者转弯步态障碍的关键神经环路机制 04:29 Nat ...
Based on our observations, we propose that TDP-43 has the propensity to form toxic protein aggregates via a gain-of-function mechanism, and such toxic overload leads to activation of protein degradation pathways such as autophagy. The novel codon optimized TDP-43 model i...
Before the discovery of TDP-43 in 2006, most tau-negative FTLD cases were collectively termed FTLD-U, and subsequently the majority of FTLD-U cases were in fact FTLD-TDP-43. In 2009, FUS was identified as one of the genes for familial ALS, and consequently most tau-negative and TDP-43...
研究发现,大约 95% 的 FTLD 病例是由 tau 蛋白和 TAR DNA 结合蛋白 43(TDP - 43)的异常病理变化引起的。虽然在动物模型和细胞培养的研究中发现,与 FTLD 相关的基因突变,如 MAPT、GRN 和 C9orf72 等,会影响线粒体自噬的不同阶段,但在人体组织和生物流体中的研究却非常稀少,而且结果也不尽相同。有的研究...
病理学确认:脑组织活检可见Tau蛋白或TDP-43包涵体。需注意与阿尔茨海默病、精神疾病鉴别。 四、治疗策略 药物治疗: NMDA受体拮抗剂(如美金刚)改善认知; 选择性5-羟色胺再摄取抑制剂(SSRIs)缓解行为异常; 非典型抗精神病药(如喹硫平)控制激越行为。 非药物治疗: 环境调整(减少刺激源); 感官...
FTLD-TDP with motor neuron disease, visuospatial impairment and a progressive supranuclear palsy-like syndrome: broadening the clinical pheno- type of TDP-43 proteinopathies. A report of three cases. BMC Neurol 2011;11:50.Rusina R, Kovacs GG, Fiala J, Hort J, Ridzon P, Holmerova I, et ...
For the remainder of this article, the term "CARTS" is applied to this specific entity, and the term "HS" is used when the setting is less specific, for example, in the context of another degenerative disease process, such as FTLD or ischemic/hypoxic injury without TDP-43 inclusions. Hipp...
TDP-43 immunohistochemistry reveals extensive neuritic pathology in FTLD-U: a Midwest-Southwest Consortium for FTLD study.TDP-43 immunohistochemistry reveals extensive neuritic pathology in FTLD-U: a Midwest-Southwest Consortium for FTLD study.Recently, TDP-43 was identified as a component of the inclus...