Gilman S
Department of Neurology, University of Michigan, Ann Arbor 48109, USA.
Clin Neuropharmacol. 2000 Nov-Dec;23(6):296-303. doi: 10.1097/00002826-200011000-00002.
The spinocerebellar ataxias (SCAs) are diseases characterized by the progressive degeneration and subsequent loss of neurons accompanied by reactive gliosis, degeneration of fibers from the deteriorating neurons, and clinical symptoms reflecting the locations of the lost neurons. The degenerative changes affect specific neuronal groups while others remain preserved, and these diseases can therefore be viewed as system degenerations. The SCAs result from either genetically transmitted diseases with dominant inheritance or unknown causes with sporadic occurrence. Most of these disorders affect the cerebellum and its pathways, resulting in progressive deterioration of cerebellar function manifested by increasing unsteadiness of gait, incoordination of limb movements with impairment of skilled movements such as handwriting, and a distinctive dysarthria. Other neuronal systems are affected in some of these disorders, notably the corticospinal pathway, basal ganglia, and autonomic nuclei of the brain stem and spinal cord.
脊髓小脑共济失调(SCAs)是一类疾病,其特征为神经元进行性变性并随后丧失,伴有反应性胶质增生、变性神经元纤维的退变,以及反映丧失神经元部位的临床症状。变性改变影响特定神经元群,而其他神经元群则保持完好,因此这些疾病可视为系统性退变。SCAs 要么由具有显性遗传的基因传递性疾病引起,要么由原因不明的散发性疾病引起。这些疾病大多影响小脑及其通路,导致小脑功能逐渐恶化,表现为步态日益不稳、肢体运动不协调以及诸如书写等精细运动受损,还有独特的构音障碍。在其中一些疾病中,其他神经元系统也会受到影响,尤其是皮质脊髓通路、基底神经节以及脑干和脊髓的自主神经核。