{"title":"肌萎缩性脊髓侧索硬化症的轻度认知障碍:当前观点。","authors":"Kurt A Jellinger","doi":"10.1007/s00702-024-02850-7","DOIUrl":null,"url":null,"abstract":"<p><p>Amyotrophic lateral sclerosis (ALS) is a fatal multi-system neurodegenerative disorder with no effective treatment or cure. Although primarily characterized by motor degeneration, cognitive dysfunction is an important non-motor symptom that has a negative impact on patient and caregiver burden. Mild cognitive deficits are present in a subgroup of non-demented patients with ALS, often preceding motor symptoms. Detailed neuropsychological assessments reveal deficits in a variety of cognitive domains, including those of verbal fluency and retrieval, language, executive function, attention and verbal memory. Mild cognitive impairment (MCI), a risk factor for developing dementia, affects between 10% and over 50% of ALS patients. Neuroimaging revealed atrophy of frontal and temporal cortices, disordered white matter Integrity, volume reduction in amygdala and thalamus, hypometabolism in the frontal and superior temporal gyrus and anterior insula. Neuronal loss in non-motor brain areas, associated with TDP-43 deposition, one of the morphological hallmarks of ALS, is linked to functional disruption of frontostriatal and frontotemporo-limbic connectivities as markers for cognitive deficits in ALS, the pathogenesis of which is still poorly understood. Early diagnosis by increased cerebrospinal fluid or serum levels of neurofilament light/heavy chain or glial fibrillary acidic protein awaits confirmation for MCI in ALS. These fluid biomarkers and early detection of brain connectivity signatures before structural changes will be helpful not only in establishing early premature diagnosis but also in clarifying the pathophysiological mechanisms of MCI in ALS, which might serve as novel targets for prohibition/delay and future adequate treatment of this debilitating disorder.</p>","PeriodicalId":16579,"journal":{"name":"Journal of Neural Transmission","volume":" ","pages":""},"PeriodicalIF":3.2000,"publicationDate":"2024-10-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Mild cognitive impairment in amyotrophic lateral sclerosis: current view.\",\"authors\":\"Kurt A Jellinger\",\"doi\":\"10.1007/s00702-024-02850-7\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Amyotrophic lateral sclerosis (ALS) is a fatal multi-system neurodegenerative disorder with no effective treatment or cure. Although primarily characterized by motor degeneration, cognitive dysfunction is an important non-motor symptom that has a negative impact on patient and caregiver burden. Mild cognitive deficits are present in a subgroup of non-demented patients with ALS, often preceding motor symptoms. Detailed neuropsychological assessments reveal deficits in a variety of cognitive domains, including those of verbal fluency and retrieval, language, executive function, attention and verbal memory. Mild cognitive impairment (MCI), a risk factor for developing dementia, affects between 10% and over 50% of ALS patients. Neuroimaging revealed atrophy of frontal and temporal cortices, disordered white matter Integrity, volume reduction in amygdala and thalamus, hypometabolism in the frontal and superior temporal gyrus and anterior insula. Neuronal loss in non-motor brain areas, associated with TDP-43 deposition, one of the morphological hallmarks of ALS, is linked to functional disruption of frontostriatal and frontotemporo-limbic connectivities as markers for cognitive deficits in ALS, the pathogenesis of which is still poorly understood. Early diagnosis by increased cerebrospinal fluid or serum levels of neurofilament light/heavy chain or glial fibrillary acidic protein awaits confirmation for MCI in ALS. These fluid biomarkers and early detection of brain connectivity signatures before structural changes will be helpful not only in establishing early premature diagnosis but also in clarifying the pathophysiological mechanisms of MCI in ALS, which might serve as novel targets for prohibition/delay and future adequate treatment of this debilitating disorder.</p>\",\"PeriodicalId\":16579,\"journal\":{\"name\":\"Journal of Neural Transmission\",\"volume\":\" \",\"pages\":\"\"},\"PeriodicalIF\":3.2000,\"publicationDate\":\"2024-10-29\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Journal of Neural Transmission\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1007/s00702-024-02850-7\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q2\",\"JCRName\":\"CLINICAL NEUROLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Neural Transmission","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1007/s00702-024-02850-7","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"CLINICAL NEUROLOGY","Score":null,"Total":0}
引用次数: 0
摘要
肌萎缩侧索硬化症(ALS)是一种致命的多系统神经退行性疾病,目前尚无有效的治疗或治愈方法。虽然主要特征是运动变性,但认知功能障碍是一种重要的非运动症状,对患者和护理人员的负担有负面影响。在 ALS 的非痴呆患者中,有一部分人存在轻度认知障碍,而且往往出现在运动症状之前。详细的神经心理学评估显示,患者在多个认知领域存在缺陷,包括言语流畅性和检索、语言、执行功能、注意力和言语记忆。轻度认知障碍(MCI)是导致痴呆症的一个危险因素,有 10%至 50%以上的 ALS 患者会受到影响。神经影像学检查显示额叶和颞叶皮质萎缩、白质完整性紊乱、杏仁核和丘脑体积缩小、额叶和颞上回以及岛叶前部代谢减弱。非运动脑区的神经元缺失与 TDP-43 沉积有关,TDP-43 沉积是 ALS 的形态学特征之一,它与前额纹状体和前额颞叶-边缘连接的功能性破坏有关,是 ALS 认知缺陷的标志,其发病机理目前仍不十分清楚。通过脑脊液或血清中神经丝轻链/重链或胶质纤维酸性蛋白水平的升高来早期诊断肌萎缩性脊髓侧索硬化症,还有待证实。这些脑脊液生物标志物和结构变化前大脑连接特征的早期检测不仅有助于早期诊断,还有助于阐明 ALS MCI 的病理生理机制,从而作为新的靶点,用于禁止/延缓和未来适当治疗这种使人衰弱的疾病。
Mild cognitive impairment in amyotrophic lateral sclerosis: current view.
Amyotrophic lateral sclerosis (ALS) is a fatal multi-system neurodegenerative disorder with no effective treatment or cure. Although primarily characterized by motor degeneration, cognitive dysfunction is an important non-motor symptom that has a negative impact on patient and caregiver burden. Mild cognitive deficits are present in a subgroup of non-demented patients with ALS, often preceding motor symptoms. Detailed neuropsychological assessments reveal deficits in a variety of cognitive domains, including those of verbal fluency and retrieval, language, executive function, attention and verbal memory. Mild cognitive impairment (MCI), a risk factor for developing dementia, affects between 10% and over 50% of ALS patients. Neuroimaging revealed atrophy of frontal and temporal cortices, disordered white matter Integrity, volume reduction in amygdala and thalamus, hypometabolism in the frontal and superior temporal gyrus and anterior insula. Neuronal loss in non-motor brain areas, associated with TDP-43 deposition, one of the morphological hallmarks of ALS, is linked to functional disruption of frontostriatal and frontotemporo-limbic connectivities as markers for cognitive deficits in ALS, the pathogenesis of which is still poorly understood. Early diagnosis by increased cerebrospinal fluid or serum levels of neurofilament light/heavy chain or glial fibrillary acidic protein awaits confirmation for MCI in ALS. These fluid biomarkers and early detection of brain connectivity signatures before structural changes will be helpful not only in establishing early premature diagnosis but also in clarifying the pathophysiological mechanisms of MCI in ALS, which might serve as novel targets for prohibition/delay and future adequate treatment of this debilitating disorder.
期刊介绍:
The investigation of basic mechanisms involved in the pathogenesis of neurological and psychiatric disorders has undoubtedly deepened our knowledge of these types of disorders. The impact of basic neurosciences on the understanding of the pathophysiology of the brain will further increase due to important developments such as the emergence of more specific psychoactive compounds and new technologies.
The Journal of Neural Transmission aims to establish an interface between basic sciences and clinical neurology and psychiatry. It intends to put a special emphasis on translational publications of the newest developments in the field from all disciplines of the neural sciences that relate to a better understanding and treatment of neurological and psychiatric disorders.