Neuropathy and cough may not be a fortuitous association.
Neuropathy and cough may not be a fortuitous association.
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DOI：
10.1590/0004-282x20140031
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发表时间：
2014-04
影响因子：
1.4
通讯作者：
W. Marques
中科院分区：
文献类型：
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作者：
W. Marques
通讯：Wilson Marques Jr.；中国农业大学学报（自然科学版），16(5):349 - 349。E-mail: wmjunior@fmrp.usp.br利益冲突：没有需要声明的利益冲突。神经病变和慢性咳嗽共存似乎是罕见的，但最近的一系列报告表明，它的发生频率肯定比我们预期的偶然关联要高。作为神经遗传学的规则，这种共存似乎与表型和基因型异质性有关。至少有2份报告描述了咳嗽和感觉和运动神经病变的存在，或与MPZ基因的特定突变或未知位点有关。然而，更常见的是，咳嗽是常染色体显性遗传性感觉和自主神经病变1型（HSAN1）的表现，也称为遗传性感觉神经病变1型（HSN1）。这也是一种异质性的情况，至少有5个基因已经被识别出来。HSN1B是与咳嗽和胃食管反流（GOR）相关的亚型。HSN1B在文献中已经报道过几次，一些家族已经定位在3p22-p24区域。最近，Beaudonnet等人在比利时举行的第5届CMT联盟会议（2013年）上介绍了9个新家族（个人通讯），但没有提供分子数据。临床上，它似乎存在相当大的变异性。肌腱抽搐可能正常、剧烈或不存在；咳嗽并不总是与GOR有关；有些人可能有阳痿和/或尿急，甚至尿失禁；感音神经性听力损失可能是一种表现；感觉受累可反映小纤维神经病和/或大纤维神经病伴感觉共济失调。在这一数量的Arquivos de Neuropsiquiatria中，Barros等人描述了一个葡萄牙家庭患有HSN1和咳嗽/GOR，清楚地促进了该疾病的临床定义。他们的病人有严重的感觉性共济失调，听力学显示有感觉神经丧失。不幸的是，没有相关数据。遗传神经病基因鉴定的一个主要贡献是更好地了解周围神经系统的生物学。确定导致这些神经病变的基因将有助于建立感觉和自主神经元的生物学，确定其相似之处，并确定它们与运动神经元的异同。有趣的是，一些运动神经病变可能表现为自主神经功能障碍。作为第二个贡献，基因鉴定将显示临床变异性是由于遗传异质性，还是只有一个基因的突变与这种广泛的临床表现有关。最后，对于那些仍然将神经检查视为正确评估病人的基本步骤的老神经科医生，或者对于那些想要正确评估病人的新神经科医生来说，阿诺德标志无疑会增加一个美丽的改进。Doi: 10.1590/0004-282x20140031 editorial
Correspondence: Wilson Marques Jr.; Rua K, 165 Cond. 5 da Boa Vista: 14033-160 Ribeirão Preto SP Brasil. E-mail: wmjunior@fmrp.usp.br Conflict of interest: There is no conflict of interest to declare. Received 14 March 2014 Accepted 21 March 2014 Coexistence of neuropathy and chronic cough seems to be rare, but a series of recent reports have shown that it certainly occurs more frequently that we would expect by a chance association. As is the rule in neurogenetics, this coexistence seems to be associated to phenotypic and genotypic heterogeneity. At least 2 reports described the existence of cough and a sensory and motor neuropathy, either related to a specific mutation in MPZ gene or to an unknown locus. More frequently, however, cough is a manifestation of an autosomal dominant hereditary sensory and autonomic neuropathy type 1 (HSAN1), also known as hereditary sensory neuropathy type 1 (HSN1). This is also a very heterogeneous condition and at least 5 genes have been recognized. HSN1B is the subtype associated to cough and gastroesophageal reflux (GOR). HSN1B has been reported a few times in the literature and some families have been mapped to 3p22-p24 region. Nine new families were recently presented at the 5 CMT Consortium Meeting in Belgium (2013) by Beaudonnet et al. (personal communication) but no molecular data has been presented. Clinically, it seems to exist considerable variability. Tendon jerks may be normal, brisk or absent; not always cough is associated to GOR; some may have impotence and/or urinary urgency or even urinary incontinency; sensorineural hearing loss may be a manifestation; sensory involvement may reflect a small fiber neuropathy and/or a large fiber neuropathy with sensory ataxia. In this number of Arquivos de Neuropsiquiatria, Barros et al. described a Portuguese family with HSN1 and cough/GOR, clearly contributing to the clinical definition of this condition. Their patients had a severe sensory ataxia and a sensorineural loss was present on audiometry. Unfortunately no linkage data was presented. A major contribution of gene identification of the hereditary neuropathies was a better understanding of the biology of the peripheral nervous system. Identification of the gene/genes responsible for these neuropathies certainly will contribute to build the biology of the sensory and autonomic neurons, to identify its similarities and to identify their similarities and differences with the motor neurons. Interestingly, some motor neuronopathies may present autonomic dysfuction. As a second contribution, gene identification will show if the clinical variability is due to genetic heterogeneity or if mutations in only one gene are associated to this large spectrum of clinical manifestations. Finally, to those old neurologists that still see neurological examination as a fundamental step of a proper patient evaluation, or to those new neurologists that want to proper evaluate their patients, the Arnold’s sign will certainly add a beautiful refinement. DOI: 10.1590/0004-282X20140031 EDITORIAL