Cerebellar ataxias
Cerebellar ataxias
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DOI：
10.1097/wco.0b013e32832b9897
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发表时间：
2009-08-01
影响因子：
4.8
通讯作者：
Marmolino, Danielle
中科院分区：
文献类型：
--
作者：
Manto, Mario;Marmolino, Danielle
综述目的小脑共济失调一词包括日常训练中遇到的各种小脑疾病。患者表现出小脑综合征，也可表现出色素性视网膜病变、锥体外系运动障碍、锥体束体征、皮质症状（癫痫发作、认知障碍/行为症状）和周围神经病变。共济失调亚型的临床诊断由于遗传亚型之间的表型的显著重叠而变得复杂。许多遗传性共济失调的致病突变的鉴定和相关动物模型的发展为神经退行性共济失调的有效治疗带来了希望。Recent findingsWe描述了小脑共济失调的当前分类，并强调了分子发病机制的最新发现。小脑疾病可分为散发性和遗传性疾病。遗传性共济失调包括常染色体隐性小脑共济失调、常染色体显性小脑共济失调/脊髓小脑共济失调和发作性共济失调以及X连锁共济失调。从运动控制的角度来看，共济失调的主要理论是基于神经表征或“内部模型”，以模仿基本的自然过程，如身体motion.SummaryRecent分子的进展有直接影响的研究和日常实践。我们提供了一个诊断共济失调的框架。这是第一次，正在研究的治疗药物是针对有害的途径。
Purpose of reviewThe term 'cerebellar ataxias' encompasses the various cerebellar disorders encountered during daily practice. Patients exhibit a cerebellar syndrome and can also present with pigmentary retinopathy, extrapyramidal movement disorders, pyramidal signs, cortical symptoms (seizures, cognitive impairment/behavioural symptoms), and peripheral neuropathy. The clinical diagnosis of subtypes of ataxias is complicated by the salient overlap of the phenotypes between genetic subtypes. The identification of the causative mutations of many hereditary ataxias and the development of relevant animal models bring hope for effective therapies in neurodegenerative ataxias.Recent findingsWe describe the current classification of cerebellar ataxias and underline the recent discoveries in molecular pathogenesis. Cerebellar disorders can be divided into sporadic forms and inherited diseases. Inherited ataxias include autosomal recessive cerebellar ataxias, autosomal dominant cerebellar ataxias/spinocerebellar ataxia) and episodic ataxias, and X-linked ataxias. From a motor control point of view, the leading theories of ataxia are based on neural representations or 'internal models' to emulate fundamental natural processes such as body motion.SummaryRecent molecular advances have direct implications for research and daily practice. We provide a framework for the diagnosis of ataxias. For the first time, the therapeutic agents under investigation are targeted to deleterious pathways.