Department of Human Genetics, Radboud University Nijmegen Medical Centre, PO Box 9101, Nijmegen 6500 HB, The Netherlands.
J Med Genet. 2011 Oct;48(10):651-9. doi: 10.1136/jmedgenet-2011-100210. Epub 2011 Aug 19.
Among the hereditary ataxias, autosomal recessive cerebellar ataxias (ARCAs) encompass a diverse group of rare neurodegenerative disorders in which a cerebellar syndrome is the key clinical feature. The clinical overlap between the different cerebellar ataxias, the occasional atypical phenotypes, and the genetic heterogeneity often complicate the clinical management of such patients. Despite the steady increase in newly discovered ARCA genes, many patients with a putative ARCA cannot be genotyped yet, proving that more genes must be involved. This review presents an updated overview of the various ARCAs. The clinical and genetic characteristics of those forms with a known molecular genetic defect are discussed, along with the emerging insights in the underlying pathophysiological mechanisms.
在遗传性共济失调中，常染色体隐性小脑共济失调（ARCA）是一组罕见的神经退行性疾病，其主要临床特征为小脑综合征。不同小脑共济失调之间存在临床重叠，偶尔出现非典型表型，遗传异质性也常使此类患者的临床管理变得复杂。尽管新发现的 ARCA 基因不断增加，但许多疑似 ARCA 的患者仍无法进行基因分型，这表明还必须涉及更多的基因。本文对各种 ARCA 进行了最新综述。讨论了具有已知分子遗传缺陷的这些形式的临床和遗传特征，以及潜在病理生理机制方面的新见解。
