Spinocerebellar Ataxia-Type 17
Spinocerebellar Ataxia-Type 17
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脊髓小脑共济失调 17 型
DOI：
10.1007/978-1-60327-426-5_102
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发表时间：
2012
期刊：
影响因子：
--
通讯作者：
D. Tarsy
中科院分区：
文献类型：
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作者：
R. Bhidayasiri;D. Tarsy
脊髓小脑性共济失调17型（SCA 17）是一种常染色体显性遗传的小脑性共济失调，具有复杂多变的表型，其特征为共济失调、痴呆、舞蹈病、肌张力障碍和帕金森综合征。受影响的患者通常在成年早期或中期（平均年龄33岁）出现进行性步态和肢体共济失调，通常伴有痴呆、精神症状和可变的锥体外系特征。可能出现其他症状和体征，如反射亢进、扫视减慢、运动不能、缄默症和癫痫发作，反映了广泛的大脑和小脑受累。SCA 17的诊断依赖于基因检测，以检测TATA结合蛋白（TBP）中的异常CAA/CAG重复扩增，这是已知与SCA 17相关的唯一基因异常。
Spinocerebellar ataxia-type 17 (SCA17) is an autosomal dominant cerebellar ataxia with a complex and variable phenotype characterized by ataxia, dementia, chorea, dystonia, and parkinsonism. Affected patients typically present in early or middle adulthood (mean age 33 years) with progressive gait and limb ataxia which is usually accompanied by dementia, psychiatric symptoms, and variable extrapyramidal features. Additional symptoms and signs such as hyperreflexia, saccadic slowing, akinesia, mutism, and seizures may develop, reflecting widespread cerebral and cerebellar involvement. The diagnosis of SCA17 relies on genetic testing to detect an abnormal CAA/CAG repeat expansion in TATA-binding protein (TBP), the only gene abnormality known to be associated with SCA17.