Department of Otolaryngology, The University of Melbourne, 550 Swanston Street, Parkville, 3010, Australia.
J Neurol. 2012 Mar;259(3):542-50. doi: 10.1007/s00415-011-6230-7. Epub 2011 Sep 2.
The aims of this study are to investigate whether auditory dysfunction is part of the spectrum of neurological abnormalities associated with Leber's hereditary optic neuropathy (LHON) and to determine the perceptual consequences of auditory neuropathy (AN) in affected listeners. Forty-eight subjects confirmed by genetic testing as having one of four mitochondrial mutations associated with LHON (mt11778, mtDNA14484, mtDNA14482 and mtDNA3460) participated. Thirty-two of these had lost vision, and 16 were asymptomatic at the point of data collection. While the majority of individuals showed normal sound detection, >25% (of both symptomatic and asymptomatic participants) showed electrophysiological evidence of AN with either absent or severely delayed auditory brainstem potentials. Abnormalities were observed for each of the mutations, but subjects with the mtDNA11778 type were the most affected. Auditory perception was also abnormal in both symptomatic and asymptomatic subjects, with >20% of cases showing impaired detection of auditory temporal (timing) cues and >30% showing abnormal speech perception both in quiet and in the presence of background noise. The findings of this study indicate that a relatively high proportion of individuals with the LHON genetic profile may suffer functional hearing difficulties due to neural abnormality in the central auditory pathways.
本研究旨在探讨听觉功能障碍是否属于与 Leber 遗传性视神经病变（LHON）相关的神经异常谱的一部分，并确定听觉神经病（AN）在受影响的听力障碍者中的感知后果。共有 48 名受试者通过基因测试证实患有与 LHON 相关的四种线粒体突变之一（mt11778、mtDNA14484、mtDNA14482 和 mtDNA3460）。其中 32 名受试者已经失明，16 名受试者在数据收集时无症状。虽然大多数人表现出正常的声音检测，但>25%（有症状和无症状的参与者）表现出 AN 的电生理证据，表现为听觉脑干电位缺失或严重延迟。每种突变都观察到了异常，但携带 mtDNA11778 类型的受试者受影响最大。听觉感知在有症状和无症状的受试者中也异常，>20%的病例表现出听觉时间（定时）线索检测受损，>30%的病例在安静和存在背景噪声时表现出异常的言语感知。本研究的发现表明，具有 LHON 遗传特征的个体中，相当一部分可能由于中枢听觉通路的神经异常而出现功能性听力困难。
