Embiruçu Emília Katiane, Martyn Marcília Lima, Schlesinger David, Kok Fernando
Outpatient Neurogenetics Clinic, Hospital das Clínicas, School of Medicine, University of São Paulo, São Paulo, SP, Brazil.
Arq Neuropsiquiatr. 2009 Dec;67(4):1143-56. doi: 10.1590/s0004-282x2009000600036.
More than 140 years after the first description of Friedreich ataxia, autosomal recessive ataxias have become one of the more complex fields in neurogenetics. Currently this group of diseases contains more than 20 clinical entities and an even larger number of associated genes. Some disorders are very rare, restricted to isolated populations, and others are found worldwide. An expressive number of recessive ataxias are treatable, and responsibility for an accurate diagnosis is high. The purpose of this review is to update the practitioner on clinical and pathophysiological aspects of these disorders and to present an algorithm to guide the diagnosis.
在首次描述弗里德赖希共济失调140多年后，常染色体隐性共济失调已成为神经遗传学中较为复杂的领域之一。目前，这类疾病包含20多种临床病症以及更多相关基因。有些病症非常罕见，仅限于特定孤立人群，而其他病症则在全球范围内都有发现。相当一部分隐性共济失调是可治疗的，准确诊断的责任重大。本综述的目的是向从业者更新这些病症的临床和病理生理学方面的知识，并提出一种指导诊断的算法。
