Department of Neurology, University Hospital Bonn, and Deutsches Zentrum für Neurodegenerative Erkrankungen (DZNE), Bonn, Germany.
Lancet Neurol. 2010 Jan;9(1):94-104. doi: 10.1016/S1474-4422(09)70305-9.
In most patients with adult-onset progressive ataxia, the condition manifests without an obvious familial background. The classification and correct diagnosis of such patients remain a challenge, because almost the entire spectrum of non-genetic and genetic causes of ataxia has to be considered. A wide range of potential causes of acquired ataxia exist, including chronic alcohol use, various other toxic agents, immune-mediated inflammation, vitamin deficiency, chronic leptomeningeal deposition of iron leading to superficial siderosis, and chronic CNS infection. Mutations in single genes can also underlie sporadic ataxia in adults. Finally, patients might have a sporadic degenerative disease, such as multiple system atrophy of cerebellar type or sporadic adult-onset ataxia of unknown aetiology. The definition of clinical criteria and delineation of characteristic MRI features have greatly facilitated the early and correct recognition of sporadic ataxias. In addition, specific serological and genetic markers are available that allow a definite diagnosis in many cases.
在大多数成人起病进行性共济失调患者中，该病无明显家族背景。因此，此类患者的分类和正确诊断仍然是一个挑战，因为几乎要考虑到所有非遗传性和遗传性共济失调的原因。获得性共济失调的潜在原因有很多，包括慢性酒精使用、各种其他毒性物质、免疫介导的炎症、维生素缺乏、导致脑表面铁沉积的慢性软脑膜铁沉积以及慢性中枢神经系统感染。单基因突变也可能导致成人散发性共济失调。最后，患者可能患有散发性退行性疾病，如小脑型多系统萎缩或散发性成人发病原因不明的共济失调。临床标准的定义和特征性 MRI 特征的划定极大地促进了散发性共济失调的早期和正确识别。此外，还存在特定的血清学和遗传学标志物，可在许多情况下做出明确诊断。
