Institute of Neurology, Catholic University of Sacred Heart, Largo F. Vito 1, 00168 Rome, Italy.
Neurol Sci. 2012 Oct;33(5):1095-9. doi: 10.1007/s10072-011-0909-5. Epub 2011 Dec 28.
Amyotrophic lateral sclerosis (ALS) is a progressive degenerative disease of upper and lower motor neurons. Sensory involvement is thought not to be a feature of ALS. We reviewed 17 cases of sural nerve biopsies performed in a large cohort of ALS patients referred to our centre over a 23-year period. More than two-third of biopsies revealed a variable degree of axonal loss. In one case, pathological findings suggested the concomitant presence of an inherited neuropathy, subsequently confirmed by genetic evaluation. In another case, pathological and neurographic data were similar to those of an inflammatory demyelinating neuropathy, but the clinical course corroborated the diagnosis of ALS. Our data confirm that sensory nerve involvement may be found in ALS patients. This finding should prompt physicians to carefully investigate a possible alternative diagnosis, but does not exclude the possibility that the patient may have ALS.
肌萎缩侧索硬化症(ALS)是一种上运动神经元和下运动神经元进行性退化的疾病。一般认为感觉受累不是 ALS 的特征。我们回顾了在过去 23 年中,我们中心对大量 ALS 患者进行的 17 例腓肠神经活检。超过三分之二的活检显示出不同程度的轴索丢失。在一例中,病理发现提示同时存在遗传性神经病,随后通过基因评估得到证实。在另一个病例中,病理和神经图数据与炎症性脱髓鞘性神经病相似,但临床过程证实了 ALS 的诊断。我们的数据证实,感觉神经受累可能在 ALS 患者中出现。这一发现应促使医生仔细调查可能的其他诊断,但不能排除患者可能患有 ALS 的可能性。