2011 Fiscal Year Final Research Report
The overseas scientific research for the elucidation of the mechanism of a novel hereditary motor sensory neuropathy originated in Japan
| Project/Area Number |
21406026
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| Research Category |
Grant-in-Aid for Scientific Research (B)
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| Allocation Type | Single-year Grants |
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| Section | 海外学術 |
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| Research Field |
Neurology
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| Research Institution | Kyoto Prefectural University of Medicine |
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Principal Investigator |
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| Co-Investigator(Kenkyū-buntansha) |
IZUMO Syuji 鹿児島大学, 医歯学総合研究科, 教授 (30143811)
KAJI Ryuji 徳島大学, ヘルスバイオサイエンス研究部, 教授 (00214304)
TAKASHIMA Hiroshi 鹿児島大学, 医歯学総合研究科, 教授 (80372803)
SHIGA Kensuke 京都府立医科大学, 医学研究科, 助教 (90336751)
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| Project Period (FY) |
2009 – 2011
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| Keywords | 脳神経疾患 / 遺伝子 / 神経科学 / HMSN-P / 日系ブラジル人 / シャルコー・マリー・トゥ-ス病 / 酸化ストレス / 第3染色 |
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| Research Abstract |
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
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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
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Research Products
(21 results)
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[Journal Article] Elevated CSF TDP-43 levels in amyotrophic lateral sclerosis : Specificity, sensitivity, and a possible prognostic value2011
Author(s)
Noto Y, Shibuya K, Sato Y, Kanai K, Misawa S, Sawai S, Mori M, Uchiyama T, Isose S, Nasu S, Sekiguchi Y, Fujimaki Y, Kasai T, Tokuda T, Nakagawa M, Kuwabara S
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Journal Title
Amyotroph Lateral Sclerosis
Volume: 12(2)
Pages: 140-143
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[Journal Article] Activity-dependent changes in impulse conduction of single human motor axons : A stimulated single fiber electromyography study2011
Author(s)
Noto Y, Misawa S, Kanai K, Sato Y, Shibuya K, Isose S, Nasu S, Sekiguchi Y, Fujimaki Y, Ohmori S, Nakagawa M, Kuwabara S
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Journal Title
Clin Neurophysiol
Volume: 122
Pages: 2512-2517
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