França Marcondes C, D'Abreu Anelyssa, Nucci Anamarli, Cendes Fernando, Lopes-Cendes Iscia
Department of Neurology, University of Campinas, São Paulo, Brazil.
Mov Disord. 2009 Jul 15;24(9):1387-90. doi: 10.1002/mds.22627.
Although ataxia is the most distressing manifestation of Machado-Joseph disease (MJD), little is known about its natural history. Therefore, we prospectively followed a cohort of patients with MJD for 13 months to characterize the progression of ataxia and identify its contributory factors. The international cooperative ataxia rating scale (ICARS) was used to estimate severity of ataxia at baseline and at follow-up. Thirty-four patients were enrolled in the study, 22 of whom were men. Mean age at onset of the disease was 34.7 years and length of expanded CAG repeat was 66. Mean ICARS scores at baseline was 37.6 and at follow-up was 42.7 (P < 0.001). Multivariate analysis did not find significant association of progression of disease and age at disease onset, length of expanded (CAG), or duration of disease.
尽管共济失调是马查多-约瑟夫病（MJD）最令人苦恼的表现，但对其自然病史却知之甚少。因此，我们对一组MJD患者进行了为期13个月的前瞻性随访，以描述共济失调的进展情况并确定其促成因素。采用国际合作共济失调评定量表（ICARS）在基线和随访时评估共济失调的严重程度。34例患者纳入本研究，其中22例为男性。疾病发病的平均年龄为34.7岁，CAG重复序列扩展长度为66。基线时ICARS平均评分为37.6，随访时为42.7（P<0.001）。多变量分析未发现疾病进展与疾病发病年龄、CAG重复序列扩展长度或疾病持续时间之间存在显著关联。
