To investigate the pattern of progression of neurologic impairment in Friedreich ataxia (FRDA) and identify patients with fast disease progression as detected by clinical rating scales.

Clinical, demographic, and genetic data were analyzed from 54 patients with FRDA included at the Brussels site of the European Friedreich's Ataxia Consortium for Translational Studies, with an average prospective follow-up of 4 years.

Afferent ataxia predated other features of FRDA, followed by cerebellar ataxia and pyramidal weakness. The Scale for the Assessment and Rating of Ataxia (SARA) best detected progression in ambulatory patients and in the first 20 years of disease duration but did not effectively capture progression in advanced disease. Dysarthria, sitting, and upper limb coordination items kept worsening after loss of ambulation. Eighty percent of patients needing support to walk lost ambulation within 2 years. Age at onset had a strong influence on progression of neurologic and functional deficits, which was maximal in patients with symptom onset before age 8 years. All these patients became unable to walk by 15 years after onset, significantly earlier than patients with later onset. Progression in the previous 1 or 2 years was not predictive of progression in the subsequent year.

The SARA is a sensitive outcome measure in ambulatory patients with FRDA and has an excellent correlation with functional capabilities. Ambulatory patients with onset before age 8 years showed the fastest measurable worsening. Loss of ambulation in high-risk patients is a disease milestone that should be considered as an end point in clinical trials.

研究弗里德赖希共济失调 (FRDA) 中神经功能障碍的进展模式，并通过临床评定量表确定疾病进展较快的患者。

对来自欧洲弗里德赖希共济失调转化研究联盟布鲁塞尔站点的 54 名 FRDA 患者的临床、人口统计和遗传数据进行了分析，平均前瞻性随访 4 年。

传入性共济失调先于 FRDA 的其他特征，其次是小脑性共济失调和锥体肌无力。共济失调评估和评定量表 (SARA) 最能检测非卧床患者和病程前 20 年的进展，但未能有效捕捉晚期疾病的进展。构音障碍、坐姿和上肢协调性项目在丧失行走能力后持续恶化。80% 需要支持才能行走的患者在 2 年内失去了行走能力。发病年龄对神经和功能缺陷的进展有很大影响，在 8 岁之前出现症状的患者中这种影响最大。所有这些患者在发病 15 年后都无法行走，明显早于发病较晚的患者。

SARA 是 FRDA 非卧床患者的一项敏感结果测量，与功能能力具有极好的相关性。8 岁前发病的门诊患者表现出最快的可测量恶化。高危患者无法行走是一个疾病里程碑，应被视为临床试验的终点。