Cassandro E, Mosca F, Sequino L, De Falco F A, Campanella G
Audiology. 1986;25(2):84-91. doi: 10.3109/00206098609078373.
Fifteen cases of Friedreich's ataxia (FA) were examined using an otoneurological test battery that included tone and speech audiometry, the synthetic sentence identification (SSI) test, impedance audiometry, cortical auditory-evoked response (CAER), brainstem auditory-evoked response (ABR) and electronystagmography. We also obtained ABR and CAER findings in 2 cases of familial spastic paraplegia, in 5 cases of Charcot-Marie-Tooth disease and 6 in cases of atypical FA of uncertain classification. The results of puretone and impedance audiometry were normal in all cases. ABR could not be elicited in 11 FA patients and were abnormal at higher intensity levels in the remaining 4 patients. In these 4 cases, however, the latencies were normal. ABR did not show any marked abnormalities in patients with familial spastic paraplegia or Charcot-Marie-Tooth disease. CAERs were normal in all 28 patients. ABRs tended to be absent with the progression of FA. ABR thresholds were correlated with the Inherited Ataxias Clinical Rating Scale score, which is an index of the severity of the illness. ABRs contributed to the diagnosis or to excluding FA in patients with an atypical clinical picture. The absence of ABRs and the normal latencies of the waves, when evoked, agree with the pathological finding of a reduction of fibers in the spinal root ganglion. SSI abnormalities and vestibular findings agree with this hypothesis.
我们使用一套耳神经学测试组合对15例弗里德赖希共济失调（FA）患者进行了检查，该测试组合包括纯音和言语听力测定、合成句子识别（SSI）测试、声阻抗测听、皮层听觉诱发电位（CAER）、脑干听觉诱发电位（ABR）和眼震电图。我们还获得了2例家族性痉挛性截瘫、5例夏科-马里-图斯病以及6例分类不明的非典型FA患者的ABR和CAER结果。所有病例的纯音和声阻抗测听结果均正常。11例FA患者无法引出ABR，其余4例患者在较高强度水平时ABR异常。然而，在这4例患者中，潜伏期正常。家族性痉挛性截瘫或夏科-马里-图斯病患者的ABR未显示任何明显异常。所有28例患者的CAER均正常。随着FA病情进展，ABR往往消失。ABR阈值与遗传性共济失调临床评定量表评分相关，该评分是疾病严重程度的指标。ABR有助于对临床表现不典型的患者进行FA的诊断或排除。ABR消失且诱发时波的潜伏期正常，这与脊神经根神经节中纤维减少的病理发现相符。SSI异常和前庭检查结果支持这一假设。
