Filla A, DeMichele G, Caruso G, Marconi R, Campanella G
Department of Neurology, Second School of Medicine, University of Naples, Italy.
J Neurol. 1990 Oct;237(6):345-51. doi: 10.1007/BF00315657.
The clinical and genetic features of 80 patients with Friedreich's disease from 64 families are described. Diagnostic criteria were: no evidence of dominant inheritance, onset by the age of 20 years, progressive unremitting ataxia of limbs and gait, and absence of knee and ankle jerks. Furthermore, at least one of the following accessory signs was present: dysarthria, extensor plantar response and echocardiographic evidence of hypertrophic cardiomyopathy. Two peaks of onset age were evident at 6-9 and 12-15 years. Analysis of intra-family variation of onset age and absence of clustering of cardiomyopathy and diabetes did not suggest genetic heterogeneity. Peripheral nerve impairment was an early finding and showed slight further progression, whereas involvement of the cerebellar and corticospinal pathways appeared later and mainly accounted for the progressive worsening of the disease.
本文描述了来自64个家庭的80例弗里德赖希共济失调患者的临床和遗传特征。诊断标准为：无显性遗传证据；发病年龄在20岁之前；肢体和步态进行性、持续性共济失调；膝跳反射和踝反射消失。此外，至少存在以下一项附加体征：构音障碍、跖伸肌反应以及肥厚型心肌病的超声心动图证据。发病年龄有两个高峰，分别在6 - 9岁和12 - 15岁。对发病年龄的家族内变异分析以及心肌病和糖尿病无聚集现象表明不存在遗传异质性。周围神经损伤是早期表现，且进展轻微，而小脑和皮质脊髓通路的受累出现较晚，主要导致疾病的进行性恶化。
