Selectivity is the rule, rather than the exception, in neurodegenerative disease. A retired telephone operator carrying a C9orf72 expansion developed phonagnosia, a selective impairment of voice recognition, contrasting with intact person knowledge and recognition of faces, as a presenting sign of genetically confirmed fronto-temporal dementia. Since the dysfunction in this patient fell into his area of professional expertise, we discuss if overload in voice related neural networks might have caused failure propagating to connected nodes. The interaction with downstream molecular events, triggered by the C9orf72 expansion, may have led to breakdown at the network level, leading to this specific phenotype.

在神经退行性疾病中，选择性是规则，而不是例外。一位退休的携带C9orf72扩展功能的电话接线员发展了语音障碍，声音识别的选择性障碍，与完整的人的知识和面部识别相反的现象，这是遗传学证实的额颞痴呆的表现。由于该患者的功能障碍属于他的专业领域，因此我们讨论了与语音相关的神经网络是否过载可能导致传播到连接节点的故障。由C9orf72扩增触发的与下游分子事件的相互作用，可能导致网络水平的破坏，从而导致这种特定的表型。