The overseas scientific research for the elucidation of the mechanism of a novel hereditary motor sensory neuropathy originated in Japan

遗传性运动感觉神经病变近端显性（HMSN-P）是一种常染色体显性缓慢进行性神经肌肉疾病，我们首先在日本冲绳的患者中进行了描述。HMSN-P基因位点定位于3号染色体上一个重叠的着丝粒区。本研究旨在阐明HMSN-P的全球流行病学、病理机制和治疗策略。我们与圣保罗大学的Paulo Euripedes Marchiori教授和Maria Teresa Alves Hirata博士合作，研究了两个日本裔巴西家庭的10名患者。在与圣保罗大学合作的RDO分子生物学实验室建立了家族基因分析系统。2011年8月5日，我在学校做了一个关于HMSN-P的教育讲座。我们与美国密尔沃基威斯康辛医学院神经内科的Michel Collins博士合作，研究了一个具有德国血统的大家庭。在f…More家族中，4代至少有10例患者，提示常染色体显性遗传。他们在临床方面与hsnp有一些相似之处，并已被诊断为沙克-玛丽-图斯病或弗里德里希共济失调。我们对他们进行了详细的神经学检查，并获得了三名知情同意的患者的唾液以获取DNA。在韩国，我们有一些信息表明，有类似HMSN-P症状的患者在韩国。然而，还没有详细的神经学研究。Fujita K等报道了一例HMSN-P的尸检。基于脑干和脊髓运动神经元累及新的FALS致病基因optineurin的神经病理结果，他们提出HMSN-P可能是FALS感觉受累的一种形式。HMSN-P的临床病理特征与SOD1突变的FALS相似。从前面的研究中，人们可能会对这个实体的分类产生一些怀疑。虽然建议将其视为伴有感觉神经病变的FALS可能更好，但HMSN-P的命名实际上可能属于ALS的一个新亚类。可以想象，世界范围内可能存在诊断为FALS、成人型SMA或2型腓骨肌萎缩症的HMSN-P患者。对HMSN-P的确切病理机制的探索可能有助于澄清其他神经系统疾病，如FALS和SMA。少

The hereditary motor sensory neuropathy with proximal dominancy(HMSN-P) is an autosomal dominant slowly progressive neuromuscular disease that we first described in patients from Okinawa, Japan. The gene locus of HMSN-P has been mapped to an overlapping centromeric region on chromosome 3.The purpose of this research is to clarify the global epidemiology, pathomechanism and therapeutic strategy for HMSN-P.We studied 10 patients in two Japanese Brazilian families with Japanese ancestry in collaboration with Prof. Paulo Euripedes Marchiori and Dr. Maria Teresa Alves Hirata in Sao Paulo University. The gene analysis system of the families has been established in RDO Molecular biology lab that is a collaboration facility of Sao Paulo University. I gave an educational lecture on HMSN-P at Aug. 5^<th>, 2011 in the University.We studied a large family with German ancestry in collaboration with Dr. Michel Collins in Department of Neurology, Medical College of Wisconsin, Milwaukee, USA. In the f … More amily, there are at least 10 patients in 4 generations suggesting autosomal dominant inheritance. They have some similar clinical aspects of HMSN-P and have been diagnosed as Charcot-Marie-Tooth disease or Friedreich ataxia. We examined them neurologically in detail and obtained the saliva from three patients with informed consent to obtain DNA.In Korea, we have some information suggesting that patients with HMSN-P like symptoms are in Korea. No detail neurological study, however, has been done.Fujita K et al reported an autopsy case of HMSN-P. They proposed that HMSN-P could be considered as a form of FALS with sensory involvement, based on the neuropathological findings of brainstem and spinal cord motor neuron involvement with optineurin, which is a new causative gene of FALS. The clinicopathological features of HMSN-P are similar to those of SOD1 mutated FALS. From the foregoing studies, one may cast some doubt on the classification of this entity as HMSN. While proposed that it might be better regarded as FALS with sensory neuronopathy, the nomenclature of HMSN-P may actually belong to a new subclass under the nosology of ALS.It is conceivable that patients with HMSN-P may exist worldwide carrying a diagnosis of FALS, adult onset SMA or Charcot-Marie-Tooth disease type 2.The quest for the exact pathomechanism of HMSN-P may contribute to clarification of other neurological diseases, such as FALS and SMA. Less