Neurophysiology Department, Rouen University Hospital, Rouen, France.
Neurology Department, Rouen University Hospital, Rouen, France.
Rev Neurol (Paris). 2023 Oct;179(8):910-913. doi: 10.1016/j.neurol.2022.12.014. Epub 2023 Jun 8.
Sensory neuronopathies name the degeneration of peripheral sensory neurons in dorsal root ganglia. Among the genetic causes, CANVAS could be the most frequent. CANVAS is a clinical entity associating cerebellar ataxia, sensory neuronopathy and vestibular areflexia due to biallelic expansions in RFC1. This study reports the 18 individuals with sensory neuronopathy tested for RFC1 expansion in our center. The clinical picture showed that chronic cough was a frequent sign beginning before the onset of other symptoms. CANVAS is an underestimated cause of late-onset sensory and cerebellar ataxia that needs to be tested for widely now that the molecular cause is known.
感觉神经元病是指背根神经节中周围感觉神经元的变性。在遗传原因中，CANVAS 可能是最常见的。CANVAS 是一种临床实体，由于 RFC1 的双等位基因扩展，与小脑共济失调、感觉神经元病和前庭反射消失相关。本研究报告了在我们中心接受 RFC1 扩展测试的 18 名感觉神经元病患者。临床表现显示，慢性咳嗽是一种常见的症状，早在其他症状出现之前就开始了。现在已知分子病因，CANVAS 是一种被低估的迟发性感觉和小脑共济失调的原因，现在需要广泛进行检测。
