Klein C, Hagenah J, Landwehrmeyer B, Münte T, Klockgether T
Sektion für Klinische und Molekulare Neurogenetik, Klinik für Neurologie, Universität zu Lübeck, Lübeck, Deutschland.
Nervenarzt. 2011 Aug;82(8):994-1001. doi: 10.1007/s00115-011-3258-y.
Neurodegenerative disorders, such as Huntington's disease, spinocerebellar ataxias, Parkinson's disease or Alzheimer's disease, manifest in adult age with insidiously developing, slowly progressing symptoms. At this stage, most patients consult a doctor, and a definite diagnosis can be made. It is, however, well established that the manifest disease is preceded by a presymptomatic disease stage that may last for years. A striking example is Parkinson's disease, in which more than half of the dopaminergic neurons of the substantia nigra are lost before motor symptoms appear. Studies of the presymptomatic stage of neurodegenerative disorders are pivotal for an advanced understanding of these disorders and the development of preventive strategies aimed at postponing the clinical onset of these disorders. It is therefore important to identify the earliest and most sensitive clinical signs and biological markers that herald the onset of the illness. Furthermore, studies of presymptomatic disease stages are important because they may help to unravel compensatory mechanisms responsible for apparently normal brain function despite ongoing neurodegeneration.
神经退行性疾病,如亨廷顿舞蹈症、脊髓小脑共济失调症、帕金森病或阿尔茨海默病,在成年期发病,症状隐匿出现且进展缓慢。在这个阶段,大多数患者会就医,并能做出明确诊断。然而,众所周知,显性疾病之前存在一个可能持续数年的症状前疾病阶段。一个显著的例子是帕金森病,在运动症状出现之前,黑质中超过一半的多巴胺能神经元已经丧失。对神经退行性疾病症状前阶段的研究对于深入理解这些疾病以及制定旨在推迟这些疾病临床发病的预防策略至关重要。因此,识别预示疾病发作的最早和最敏感的临床体征及生物标志物很重要。此外,对症状前疾病阶段的研究也很重要,因为它们可能有助于揭示尽管存在持续的神经退行性变但大脑功能仍看似正常的代偿机制。