From Oxford University, John Radcliffe Hospital (D.B., R.A.L.M., K.T., M.H., M.R.T.); Milton Keynes Hospital NHS Trust (R.B.), Buckinghamshire; and Oxford University, Warneford Hospital (R.A.L.M.), UK.
Neurology. 2014 Feb 4;82(5):457-8. doi: 10.1212/WNL.0000000000000090. Epub 2013 Dec 20.
The onset of motor symptoms in amyotrophic lateral sclerosis (ALS) is strikingly focal. In three-quarters of cases, weakness emerges unilaterally in one limb, typically spreading contiguously over months to become bilateral.(1) An extremely rare clinical syndrome of upper motor neuron-predominant, progressive hemiparesis was first described by American neurologist Charles Karsner Mills (1845-1930).(2) More typical ALS shares a common histopathologic signature with frontotemporal dementia (FTD), consisting of ubiquitinated neuronal and glial inclusions containing the DNA and RNA binding protein, TDP-43. Cognitive impairment may be detected in at least one-third of ALS cases and involves mainly deficits in language, executive function, and fluency, with variable levels of behavioral impairments that all have overlap with the purer FTD syndromes. Frank FTD is seen in up to 15% of patients with ALS, in whom it typically occurs before or soon after the development of motor symptoms, and is associated with a more rapid disease progression.(3.)
肌萎缩侧索硬化症（ALS）的运动症状发作具有明显的局限性。在四分之三的病例中，肌无力单侧出现在一条肢体上，通常在数月内连续蔓延至双侧。（1）美国神经病学家查尔斯·卡森纳·米尔斯（Charles Karsner Mills，1845-1930）首次描述了一种极其罕见的以上运动神经元为主、进行性偏瘫的临床综合征。（2）更典型的 ALS 与额颞叶痴呆（FTD）具有共同的组织病理学特征，包括含有 DNA 和 RNA 结合蛋白 TDP-43 的泛素化神经元和神经胶质内含物。至少三分之一的 ALS 病例可检测到认知障碍，主要涉及语言、执行功能和流畅性方面的缺陷，以及不同程度的行为障碍，这些都与更纯粹的 FTD 综合征有重叠。在多达 15%的 ALS 患者中可见到明显的额颞叶痴呆，其通常在运动症状出现之前或之后不久发生，并与疾病进展更快相关。（3.）
Zotero 插件