The overseas scientific research for the elucidation of the mechanism of a novel hereditary motor sensory neuropathy originated in Japan
起源于日本的新型遗传性运动感觉神经病发病机制的海外科学研究
基本信息
- 批准号:21406026
- 负责人:
- 金额:$ 10.07万
- 依托单位:
- 依托单位国家:日本
- 项目类别:Grant-in-Aid for Scientific Research (B)
- 财政年份:2009
- 资助国家:日本
- 起止时间:2009 至 2011
- 项目状态:已结题
- 来源:
- 关键词:
项目摘要
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
遗传性运动感觉神经病伴近端优势(HMSN-P)是一种常染色体显性遗传的缓慢进行性神经肌肉疾病,我们首先在日本冲绳的患者中描述。HMSN-P基因定位于3号染色体上的一个重叠着丝粒区域。本研究的目的是阐明HMSN-P的全球流行病学、发病机制和治疗策略。圣保罗大学合作的RDO分子生物学实验室建立了家系的基因分析系统。我于2011年8月5日在<th>美国密尔沃基的威斯康星州医学院神经病学系与Michel柯林斯博士合作,对一个具有德国血统的大家庭进行了研究。在f ...更多信息 家族4代至少有10例为常染色体显性遗传。他们有一些类似的HMSN-P的临床方面,并已被诊断为夏科-玛丽-图思病或弗里德赖希共济失调。我们对他们进行了详细的神经学检查,并在知情同意的情况下从三名患者那里获得了唾液以获得DNA。在韩国,我们有一些信息表明患有HMSN-P样症状的患者在韩国。Fujita K等报道了一例HMSN-P的尸检病例,根据其脑干和脊髓运动神经元与新发现的FALS致病基因optineurin的关系,提出HMSN-P可能是一种感觉受累的FALS。HMSN-P的临床病理特征与SOD 1突变型FALS相似。从上述研究中,人们可能会对这种实体作为HMSN的分类产生一些疑问。HMSN-P的命名可能属于ALS疾病分类学下的一个新的亚类。可以想象,HMSN-P患者可能在世界范围内存在着被诊断为ALS、成人发作的SMA或Charcot-Marie-Tooth病2型的患者。对HMSN-P确切病理机制的探索可能有助于阐明其他神经系统疾病,例如FALS和SMA。少
项目成果
期刊论文数量(0)
专著数量(0)
科研奖励数量(0)
会议论文数量(0)
专利数量(0)
Charcot-Marie-Tooth病の診断と治療・ケア
腓骨肌萎缩症的诊断、治疗和护理
- DOI:
- 发表时间:2011
- 期刊:
- 影响因子:0
- 作者:Uehara O;Abiko Y;Saitoh M;Miyakawa H;Nakazawa F.;中川正法
- 通讯作者:中川正法
The international collaboration study between Brazil and Japan for hereditary motor sensory neuropathy with proximal dominancy(HMSN-P) originated in Japan
巴西与日本针对近端优势遗传性运动感觉神经病(HMSN-P)的国际合作研究起源于日本
- DOI:
- 发表时间:2010
- 期刊:
- 影响因子:0
- 作者:Nakagawa M;Shiga K;Kaji R;Izumo S;Takashima H;Maeda K
- 通讯作者:Maeda K
Axotomy induces axonogenesis in hippocampal neurons by a mechanism dependent on importin β
- DOI:10.1016/j.bbrc.2011.01.108
- 发表时间:2011-02-25
- 期刊:
- 影响因子:3.1
- 作者:Ohara, Ryo;Hata, Katsuhiko;Yamashita, Toshihide
- 通讯作者:Yamashita, Toshihide
The international collaboration study between Brazil and Japan for hereditary motor sensory neuropathy with proximal dominancy (HMSN-P) originated in Japan
巴西与日本针对近端优势遗传性运动感觉神经病(HMSN-P)的国际合作研究起源于日本
- DOI:
- 发表时间:2010
- 期刊:
- 影响因子:0
- 作者:Masanori Nakagawa;Kensuke Shiga;Ryuji Kaji;Shuji Izumo;Hiroshi Takashima;Kengo Maeda
- 通讯作者:Kengo Maeda
A commentary on Molecular diagnosis and clinical onset of Charcot-Marie-Tooth disease in Japan
日本腓骨肌萎缩症的分子诊断和临床发病评论
- DOI:
- 发表时间:2011
- 期刊:
- 影响因子:3.5
- 作者:Ichihara G;et al;五ノ井透;Itsuo Chiba et al.;Nakagawa M
- 通讯作者:Nakagawa M
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NAKAGAWA Masanori其他文献
NAKAGAWA Masanori的其他文献
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{{ truncateString('NAKAGAWA Masanori', 18)}}的其他基金
Research for investigating Alexander disease using astrocytes differentiated from iPS cells
使用 iPS 细胞分化的星形胶质细胞调查亚历山大病的研究
- 批准号:
24659433 - 财政年份:2012
- 资助金额:
$ 10.07万 - 项目类别:
Grant-in-Aid for Challenging Exploratory Research
The overseas scientific research for the elucidation of the mechanism of a novel familial motor neuron disease with sensory neuropathy originated in Japan
起源于日本的新型家族性运动神经元疾病伴感觉神经病发病机制的海外科学研究
- 批准号:
24406030 - 财政年份:2012
- 资助金额:
$ 10.07万 - 项目类别:
Grant-in-Aid for Scientific Research (B)
An experimental and theoretical study on psychological mechanism of metaphor understanding and metaphor generation
隐喻理解与隐喻生成心理机制的实验与理论研究
- 批准号:
19330156 - 财政年份:2007
- 资助金额:
$ 10.07万 - 项目类别:
Grant-in-Aid for Scientific Research (B)
Molecular analysis of a new type of spinocerebellar degeneration with GFAP mutations
具有 GFAP 突变的新型脊髓小脑变性的分子分析
- 批准号:
15590902 - 财政年份:2003
- 资助金额:
$ 10.07万 - 项目类别:
Grant-in-Aid for Scientific Research (C)
Development of a feedback neural network model of expert's decision-making process
专家决策过程反馈神经网络模型的开发
- 批准号:
15300270 - 财政年份:2003
- 资助金额:
$ 10.07万 - 项目类别:
Grant-in-Aid for Scientific Research (B)
The Construction of The Chaotic Neural Networks System of Insightful Problem Solving
洞察问题解决的混沌神经网络系统的构建
- 批准号:
13480043 - 财政年份:2001
- 资助金额:
$ 10.07万 - 项目类别:
Grant-in-Aid for Scientific Research (B)
Molecular analysis of a new type of hereditary motor sensory neuropathy with proximal dominant involvement
近端显性受累的新型遗传性运动感觉神经病的分子分析
- 批准号:
13670661 - 财政年份:2001
- 资助金额:
$ 10.07万 - 项目类别:
Grant-in-Aid for Scientific Research (C)
Longitudinal study in an island community for aging effects on neurological findings and genetic factors on vascular dementia
在岛屿社区中进行的纵向研究,了解衰老对神经系统检查结果的影响以及血管性痴呆的遗传因素
- 批准号:
10670596 - 财政年份:1999
- 资助金额:
$ 10.07万 - 项目类别:
Grant-in-Aid for Scientific Research (C)
The Experimental Study of Logical Learning System using Computer
计算机逻辑学习系统的实验研究
- 批准号:
10480034 - 财政年份:1998
- 资助金额:
$ 10.07万 - 项目类别:
Grant-in-Aid for Scientific Research (B)
Molecular biology of neurological diseases with abnormality of central or peripheral nerve myelin
中枢或周围神经髓磷脂异常的神经系统疾病的分子生物学
- 批准号:
07670720 - 财政年份:1995
- 资助金额:
$ 10.07万 - 项目类别:
Grant-in-Aid for Scientific Research (C)
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