Filla A, De Michele G, Barbieri F, Campanella G
Clinica Neurologica, Seconda Facoltà di Medicina, Università Federico II, Napoli.
Acta Neurol (Napoli). 1992 Aug-Dec;14(4-6):420-30.
Among 300 patients affected by hereditary ataxia, 94 received the diagnosis of Friedreich's disease, 12 of Late Onset Friedreich's disease, 27 of Early Onset Cerebellar Ataxia with retained tendon reflexes, 10 of Progressive Myoclonic Ataxia, 4 of Ataxia with hypogonadism and 2 of Ataxia with hearing loss. Only Friedreich's disease appears clinically homogeneous, whereas the others are not specific entities and each of them probably includes different diseases.
在300例遗传性共济失调患者中,94例被诊断为弗里德赖希共济失调,12例为晚发型弗里德赖希共济失调,27例为早发性小脑共济失调伴腱反射保留,10例为进行性肌阵挛共济失调,4例为共济失调伴性腺功能减退,2例为共济失调伴听力丧失。只有弗里德赖希共济失调在临床上表现出同质性,而其他类型并非特定的单一疾病,它们可能各自包含不同的疾病。