Abstract：
Early onset ataxias (EOAs) are a heterogeneous group of rare neurological disorders that not only involve the central and peripheral nervous system but also involve other organs. They are mainly manifested by degeneration or abnormal development of the cerebellum occurring before the age of 25 years and typically the pattern of inheritance is autosomal recessive.The diagnosis of autosomal recessive cerebellar ataxias (ARCAs) is confirmed by the clinical, laboratory, electrophysiological examination, neuroimaging findings, and mutation analysis when the causative gene is detected. Correct diagnosis is crucial for appropriate genetic counseling, estimating the prognosis, and, in some cases, pharmacological intervention. The wide variety of genotypes with a heterogeneous phenotypic manifestation makes the diagnostic work-up challenging, time-consuming, and expensive, not only for the clinician but also for the children and their parents. In this review, we focused on the step-by-step approach in which cerebellar ataxia is a prominent sign. We also outline the most common disorders in ataxias with early-onset manifestations.
摘要：
早发性共济失调（EOA）是一组罕见的神经系统疾病，不仅涉及中枢和周围神经系统，还涉及其他器官。它们主要表现为25岁之前发生的小脑退化或异常发育，通常遗传模式是常染色体隐性遗传。常染色体隐性遗传小脑共济失调(ARCAs)的诊断得到临床证实,实验室,电生理检查,神经影像学发现，以及检测到致病基因时的突变分析。正确的诊断对于适当的遗传咨询至关重要，估计预后，and,在某些情况下,药理干预。具有异质性表型表现的各种基因型使得诊断工作具有挑战性，耗时,而且昂贵，不仅为临床医生，也为孩子和他们的父母。在这次审查中,我们关注的是小脑共济失调是一个突出的征兆的循序渐进的方法。我们还概述了共济失调中最常见的早发性疾病。
