Autosomal recessive cerebellar ataxias.
Autosomal recessive cerebellar ataxias.
复制标题
常染色体隐性小脑共济失调。
DOI：
10.1186/1750-1172-1-47
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发表时间：
2006-11-17
影响因子：
3.7
通讯作者：
Espinos, Carmen
中科院分区：
文献类型：
--
作者：
Palau, Francesc;Espinos, Carmen
常染色体隐性小脑性共济失调 (ARCA) 是一组异质性罕见神经系统疾病，涉及中枢和周围神经系统，有时还涉及其他系统和器官，其特征是小脑和脊髓变性或发育异常，常染色体隐性遗传，大多数情况下，早发型发生在 20 岁之前。该组包括大量罕见疾病，在白种人中最常见的是弗里德赖希共济失调（估计患病率 2-4/100,000）、共济失调毛细血管扩张症（1-2.5/100,000）和早发性腱反射保留的小脑性共济失调（1/100,000）。其他形式的 ARCA 则不太常见。根据临床遗传学标准，可以区分五种主要类型的 ARCA：先天性共济失调（发育障碍）、与代谢紊乱相关的共济失调、具有 DNA 修复缺陷的共济失调、退行性共济失调和与其他特征相关的共济失调。这些疾病是由特定基因突变引起的，其中一些基因突变已被鉴定，例如弗里德赖希共济失调中的frataxin、维生素E缺乏性共济失调中的α-生育酚转移蛋白（AVED）、共济失调中动眼失用症中的aprataxin（AOA1）和共济失调中动眼失用症中的senataxin（AOA2）。当确定致病基因时，可通过神经影像学（磁共振成像、扫描）、电生理检查和突变分析等辅助测试来确认临床诊断。正确的临床和遗传诊断对于适当的遗传咨询和预后以及在某些情况下的药物治疗非常重要。由于常染色体隐性遗传，受影响个体以前不太可能有家族史。对于大多数 ARCA，除了辅酶 Q10 缺乏症和无β脂蛋白血症外，没有特定的药物治疗。
Autosomal recessive cerebellar ataxias (ARCA) are a heterogeneous group of rare neurological disorders involving both central and peripheral nervous system, and in some case other systems and organs, and characterized by degeneration or abnormal development of cerebellum and spinal cord, autosomal recessive inheritance and, in most cases, early onset occurring before the age of 20 years. This group encompasses a large number of rare diseases, the most frequent in Caucasian population being Friedreich ataxia (estimated prevalence 2–4/100,000), ataxia-telangiectasia (1–2.5/100,000) and early onset cerebellar ataxia with retained tendon reflexes (1/100,000). Other forms ARCA are much less common. Based on clinicogenetic criteria, five main types ARCA can be distinguished: congenital ataxias (developmental disorder), ataxias associated with metabolic disorders, ataxias with a DNA repair defect, degenerative ataxias, and ataxia associated with other features. These diseases are due to mutations in specific genes, some of which have been identified, such as frataxin in Friedreich ataxia, α-tocopherol transfer protein in ataxia with vitamin E deficiency (AVED), aprataxin in ataxia with oculomotor apraxia (AOA1), and senataxin in ataxia with oculomotor apraxia (AOA2). Clinical diagnosis is confirmed by ancillary tests such as neuroimaging (magnetic resonance imaging, scanning), electrophysiological examination, and mutation analysis when the causative gene is identified. Correct clinical and genetic diagnosis is important for appropriate genetic counseling and prognosis and, in some instances, pharmacological treatment. Due to autosomal recessive inheritance, previous familial history of affected individuals is unlikely. For most ARCA there is no specific drug treatment except for coenzyme Q10 deficiency and abetalipoproteinemia.