Spinocerebellar ataxia with ocular motor apraxia and DNA repair

被引:25
作者
Onodera, Osamu [1 ]
机构
[1] Niigata Univ, Brain Res Inst, Resource Branch Brain Dis, Dept Mol Neurosci, Niigata 9518520, Japan
关键词
aprataxin; ataxia; early-onset ataxia with ocular motor apraxia and hypoalbuminemia /ataxia; ocular motor apraxia; oculomotor apraxia type 1; single-strand break repair;
D O I
10.1111/j.1440-1789.2006.00741.x
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
At least four disorders, ataxia telangiectasia (AT), an ataxia-telangiectasia-like disorder, early-onset ataxia with ocular motor apraxia and hypoalbuminemia (EAOH)/ataxia with oculomotor apraxia type 1 (AOA1), and ataxia with oculomotor apraxia type 2, are accompanied by ocular motor apraxia (OMA), which is an impairment of saccadic eye movement initiation. The characteristic pathological findings of EAOH/AOA1 and AT are a severe loss of Purkinje cells, severe myelin pallor of the posterior columns, and moderate neuronal loss in the dorsal root ganglia and anterior horn. Purkinje cells stimulate the fastigial nucleus and suppress omnipause neurons to initiate saccadic eye movement. The selective loss of Purkinje cells might cause OMA and disturb the cancellation of the vestibulo-ocular reflex. These disorders have the following common clinical features: ataxia, involuntary movements, and peripheral neuronopathy. In addition, the causative genes for these disorders are associated with the DNA/RNA quality control system. The impairment of DNA/RNA integrity results in selective neuronal loss in these recessive-inherited ataxias.
引用
收藏
页码:361 / 367
页数:7
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