Gen Sobue

Summary

Affiliation: Nagoya University
Country: Japan

Publications

  1. doi request reprint Walking capacity evaluated by the 6-minute walk test in spinal and bulbar muscular atrophy
    Yu Takeuchi
    Department of Neurology, Nagoya University Graduate School of Medicine, 65 Tsurumai Cho, Showa Ku, Nagoya, Japan
    Muscle Nerve 38:964-71. 2008
  2. pmc Position-dependent FUS-RNA interactions regulate alternative splicing events and transcriptions
    Shinsuke Ishigaki
    Department of Neurology, Division of Neurogenetics, Center for Neurological Diseases and Cancer, Nagoya University Graduate School of Medicine, Nagoya, Japan
    Sci Rep 2:529. 2012
  3. pmc RNP2 of RNA recognition motif 1 plays a central role in the aberrant modification of TDP-43
    Shinnosuke Takagi
    Department of Neurology, Nagoya University Graduate School of Medicine, Nagoya, Japan
    PLoS ONE 8:e66966. 2013
  4. pmc c-Abl inhibition delays motor neuron degeneration in the G93A mouse, an animal model of amyotrophic lateral sclerosis
    Ryu Katsumata
    Department of Neurology, Nagoya University Graduate School of Medicine, Tsurumai cho, Nagoya, Japan
    PLoS ONE 7:e46185. 2012
  5. pmc dnc-1/dynactin 1 knockdown disrupts transport of autophagosomes and induces motor neuron degeneration
    Kensuke Ikenaka
    Department of Neurology, Nagoya University Graduate School of Medicine, Nagoya, Japan
    PLoS ONE 8:e54511. 2013
  6. doi request reprint Diagnosis of familial amyloid polyneuropathy: wide-ranged clinicopathological features
    Haruki Koike
    Nagoya University Graduate School of Medicine, Department of Neurology, Nagoya 466 8550, Japan 81 52 744 2385 81 52 744 2384
    Expert Opin Med Diagn 4:323-31. 2010
  7. doi request reprint Molecular pathophysiology and disease-modifying therapies for spinal and bulbar muscular atrophy
    Masahisa Katsuno
    Department of Neurology, Nagoya University Graduate School of Medicine, 65 Tsurumai Cho, Showa Ku, Nagoya, Japan
    Arch Neurol 69:436-40. 2012
  8. doi request reprint Perspectives on molecular targeted therapies and clinical trials for neurodegenerative diseases
    Masahisa Katsuno
    Department of Neurology, Nagoya University Graduate School of Medicine, Nagoya, Japan
    J Neurol Neurosurg Psychiatry 83:329-35. 2012
  9. ncbi request reprint Clinicopathologic and genetic features of early- and late-onset FAP type I (FAP ATTR Val30Met) in Japan
    Gen Sobue
    Department of Neurology, Nagoya University Graduate School of Medicine, Nagoya 466 8550, Japan
    Amyloid 10:32-8. 2003
  10. ncbi request reprint Alleviating neurodegeneration by an anticancer agent: an Hsp90 inhibitor (17-AAG)
    Masahiro Waza
    Department of Neurology, Nagoya University Graduate School of Medicine, 65 Tsurumai Cho, Showa Ku, Nagoya 466 8550, Japan
    Ann N Y Acad Sci 1086:21-34. 2006

Collaborators

Detail Information

Publications125 found, 100 shown here

  1. doi request reprint Walking capacity evaluated by the 6-minute walk test in spinal and bulbar muscular atrophy
    Yu Takeuchi
    Department of Neurology, Nagoya University Graduate School of Medicine, 65 Tsurumai Cho, Showa Ku, Nagoya, Japan
    Muscle Nerve 38:964-71. 2008
    ..982). In a 1-year follow-up the 6MWD significantly decreased at a rate of 11.3% per year. Our observations suggest that the 6MWT is a biomarker that can be used to monitor progression of motor impairment in SBMA...
  2. pmc Position-dependent FUS-RNA interactions regulate alternative splicing events and transcriptions
    Shinsuke Ishigaki
    Department of Neurology, Division of Neurogenetics, Center for Neurological Diseases and Cancer, Nagoya University Graduate School of Medicine, Nagoya, Japan
    Sci Rep 2:529. 2012
    ..Our analysis revealed that FUS regulates alternative splicing events and transcriptions in a position-dependent manner...
  3. pmc RNP2 of RNA recognition motif 1 plays a central role in the aberrant modification of TDP-43
    Shinnosuke Takagi
    Department of Neurology, Nagoya University Graduate School of Medicine, Nagoya, Japan
    PLoS ONE 8:e66966. 2013
    ..These findings suggest that the RNP2 motif of RRM1 plays a substantial role in pathological TDP-43 modifications and that it is possible that disruption of RNA binding may underlie the process of TDP-43 aggregation. ..
  4. pmc c-Abl inhibition delays motor neuron degeneration in the G93A mouse, an animal model of amyotrophic lateral sclerosis
    Ryu Katsumata
    Department of Neurology, Nagoya University Graduate School of Medicine, Tsurumai cho, Nagoya, Japan
    PLoS ONE 7:e46185. 2012
    ..Although the pathogenesis of ALS remains unclear, several cellular processes are known to be involved, including apoptosis. A previous study revealed the apoptosis-related gene c-Abl to be upregulated in sporadic ALS motor neurons...
  5. pmc dnc-1/dynactin 1 knockdown disrupts transport of autophagosomes and induces motor neuron degeneration
    Kensuke Ikenaka
    Department of Neurology, Nagoya University Graduate School of Medicine, Nagoya, Japan
    PLoS ONE 8:e54511. 2013
    ..Thus, our results suggest that decreased expression of dynactin 1 induces motor neuron degeneration and that the transport of autophagosomes is a novel and substantial therapeutic target for motor neuron degeneration...
  6. doi request reprint Diagnosis of familial amyloid polyneuropathy: wide-ranged clinicopathological features
    Haruki Koike
    Nagoya University Graduate School of Medicine, Department of Neurology, Nagoya 466 8550, Japan 81 52 744 2385 81 52 744 2384
    Expert Opin Med Diagn 4:323-31. 2010
    ....
  7. doi request reprint Molecular pathophysiology and disease-modifying therapies for spinal and bulbar muscular atrophy
    Masahisa Katsuno
    Department of Neurology, Nagoya University Graduate School of Medicine, 65 Tsurumai Cho, Showa Ku, Nagoya, Japan
    Arch Neurol 69:436-40. 2012
    ..Pathogenic AR-induced myopathy also contributes to the degeneration of motor neurons. Several potential therapies, including hormonal manipulation, have emerged from animal studies, some of which have been tested in clinical trials...
  8. doi request reprint Perspectives on molecular targeted therapies and clinical trials for neurodegenerative diseases
    Masahisa Katsuno
    Department of Neurology, Nagoya University Graduate School of Medicine, Nagoya, Japan
    J Neurol Neurosurg Psychiatry 83:329-35. 2012
    ..As it is now clear that conventional approaches are not necessarily appropriate for the development of molecular targeted therapies, both basic and clinical studies require conceptual innovation...
  9. ncbi request reprint Clinicopathologic and genetic features of early- and late-onset FAP type I (FAP ATTR Val30Met) in Japan
    Gen Sobue
    Department of Neurology, Nagoya University Graduate School of Medicine, Nagoya 466 8550, Japan
    Amyloid 10:32-8. 2003
    ..Unmyelinated fibers in the biopsied sural nerve specimens of late-onset cases seemed to be relatively well preserved compared to those of previously reported early-onset cases...
  10. ncbi request reprint Alleviating neurodegeneration by an anticancer agent: an Hsp90 inhibitor (17-AAG)
    Masahiro Waza
    Department of Neurology, Nagoya University Graduate School of Medicine, 65 Tsurumai Cho, Showa Ku, Nagoya 466 8550, Japan
    Ann N Y Acad Sci 1086:21-34. 2006
    ..Our proposed therapeutic approach using a novel anticancer agent 17-AAG has emerged as a candidate for molecular-targeted therapies for neurodegenerative diseases...
  11. ncbi request reprint Gene expression profiling toward understanding of ALS pathogenesis
    Fumiaki Tanaka
    Department of Neurology, Nagoya University Graduate School of Medicine, 65 Tsurumai Cho, Showa Ku, Nagoya 466 8550, Japan
    Ann N Y Acad Sci 1086:1-10. 2006
    ..Challenging tasks lie ahead of us such as identifying which genes are really causative for ALS and developing a disease model of SALS with due consideration for the expression changes in those genes...
  12. doi request reprint Dorfin ameliorates phenotypes in a transgenic mouse model of amyotrophic lateral sclerosis
    Jun Sone
    Department of Neurology, Nagoya University Graduate School of Medicine, Nagoya, Japan
    J Neurosci Res 88:123-35. 2010
    ..Our results indicate that Dorfin overexpression or the activation or induction of E3 may be a therapeutic avenue for mutant SOD1-associated ALS...
  13. doi request reprint Natural history of transthyretin Val30Met familial amyloid polyneuropathy: analysis of late-onset cases from non-endemic areas
    Haruki Koike
    Department of Neurology, Nagoya University Graduate School of Medicine, 65 Tsurumai Cho, Showa Ku, Nagoya 466 8550, Japan
    J Neurol Neurosurg Psychiatry 83:152-8. 2012
    ..The objective of this study was to elucidate the natural history of late-onset transthyretin Val30Met-associated familial amyloid polyneuropathy (FAP ATTR Val30Met) in non-endemic areas...
  14. ncbi request reprint CHIP overexpression reduces mutant androgen receptor protein and ameliorates phenotypes of the spinal and bulbar muscular atrophy transgenic mouse model
    Hiroaki Adachi
    Department of Neurology, Nagoya University Graduate School of Medicine, Showa Ku, Nagoya 466 8550, Japan
    J Neurosci 27:5115-26. 2007
    ..Thus, CHIP overexpression would provide a potential therapeutic avenue for SBMA...
  15. ncbi request reprint CAG repeat size correlates to electrophysiological motor and sensory phenotypes in SBMA
    Keisuke Suzuki
    Department of Neurology, Nagoya University Graduate School of Medicine, Nagoya, Japan
    Brain 131:229-39. 2008
    ..In conclusion, our results suggest that there are unequivocal electrophysiological phenotypes influenced by CAG repeat size in SBMA...
  16. doi request reprint Electrophysiological features of late-onset transthyretin Met30 familial amyloid polyneuropathy unrelated to endemic foci
    Haruki Koike
    Department of Neurology, Nagoya University Graduate School of Medicine, Nagoya, 466 8550, Japan
    J Neurol 255:1526-33. 2008
    ..Through the development of gene diagnostic techniques, late-onset transthyretin Met30-associated familial amyloid polyneuropathy (FAP TTR Met30) has been shown to be more prevalent than is generally believed...
  17. ncbi request reprint Dorfin-CHIP chimeric proteins potently ubiquitylate and degrade familial ALS-related mutant SOD1 proteins and reduce their cellular toxicity
    Shinsuke Ishigaki
    Department of Neurology, Nagoya University Graduate School of Medicine, Nagoya 466 8500, Japan
    Neurobiol Dis 25:331-41. 2007
    ..Furthermore, Dorfin-CHIP(L) rescued neuronal cells from mutant SOD1-associated toxicity and reduced the aggresome formation induced by mutant SOD1 more effectively than did Dorfin(WT)...
  18. pmc Dorfin localizes to the ubiquitylated inclusions in Parkinson's disease, dementia with Lewy bodies, multiple system atrophy, and amyotrophic lateral sclerosis
    Nozomi Hishikawa
    Department of Neurology, Nagoya University Graduate School of Medicine, Nagoya, Japan
    Am J Pathol 163:609-19. 2003
    ....
  19. ncbi request reprint Reversible disruption of dynactin 1-mediated retrograde axonal transport in polyglutamine-induced motor neuron degeneration
    Masahisa Katsuno
    Department of Neurology, Nagoya University Graduate School of Medicine, Showa Ku, Nagoya 466 8550, Japan
    J Neurosci 26:12106-17. 2006
    ..These observations indicate that polyglutamine-dependent transcriptional dysregulation of dynactin 1 plays a crucial role in the reversible neuronal dysfunction in the early stage of SBMA...
  20. ncbi request reprint Dorfin prevents cell death by reducing mitochondrial localizing mutant superoxide dismutase 1 in a neuronal cell model of familial amyotrophic lateral sclerosis
    Hideyuki Takeuchi
    Department of Neurology, Nagoya University Graduate School of Medicine, 65 Tsurumai Cho, Showa Ku, Nagoya 466 8550, Japan
    J Neurochem 89:64-72. 2004
    ..These results suggest that reducing the accumulation of mutant SOD1 in the mitochondria may be a new therapeutic strategy for mutant SOD1-associated FALS, and that Dorfin may play a significant role in this...
  21. ncbi request reprint Gene expressions specifically detected in motor neurons (dynactin 1, early growth response 3, acetyl-CoA transporter, death receptor 5, and cyclin C) differentially correlate to pathologic markers in sporadic amyotrophic lateral sclerosis
    Yue Mei Jiang
    Department of Neurology, Nagoya University Graduate School of Medicine, Nagoya, Japan
    J Neuropathol Exp Neurol 66:617-27. 2007
    ..The sequence of motor neuron-specific gene expression changes in sporadic ALS can be beneficial information in developing appropriate therapeutic strategies for neurodegeneration...
  22. ncbi request reprint Disulfide bond mediates aggregation, toxicity, and ubiquitylation of familial amyotrophic lateral sclerosis-linked mutant SOD1
    Jun ichi Niwa
    Department of Neurology, Nagoya University Graduate School of Medicine, 65 Tsurumai Cho, Showa Ku, Nagoya 466 8500, Japan
    J Biol Chem 282:28087-95. 2007
    ..We found that Dorfin ubiquitylated mutant SOD1 by recognizing the Cys(6)- and Cys(111)-disulfide cross-linked form and targeted it for proteasomal degradation...
  23. ncbi request reprint 17-AAG, an Hsp90 inhibitor, ameliorates polyglutamine-mediated motor neuron degeneration
    Masahiro Waza
    Department of Neurology, Nagoya University Graduate School of Medicine, 65 Tsurumai Cho, Showa Ku, Nagoya 466 8550, Japan
    Nat Med 11:1088-95. 2005
    ..17-AAG also mildly induced Hsp70 and Hsp40. 17-AAG would thus provide a new therapeutic approach to SBMA and probably to other related neurodegenerative diseases...
  24. ncbi request reprint Physical and functional interaction between Dorfin and Valosin-containing protein that are colocalized in ubiquitylated inclusions in neurodegenerative disorders
    Shinsuke Ishigaki
    Department of Neurology, Nagoya University Graduate School of Medicine, Nagoya 466 8500, Japan
    J Biol Chem 279:51376-85. 2004
    ..Our results indicate that VCPs functionally regulate Dorfin through direct interaction and that their functional interplay may be related to the process of UBI formation in neurodegenerative disorders, such as ALS or PD...
  25. ncbi request reprint Dorfin localizes to Lewy bodies and ubiquitylates synphilin-1
    Takashi Ito
    Department of Neurology, Nagoya University Graduate School of Medicine, Showa Ku, Nagoya 466 8550, Japan
    J Biol Chem 278:29106-14. 2003
    ....
  26. ncbi request reprint Gene expression profile of spinal motor neurons in sporadic amyotrophic lateral sclerosis
    Yue Mei Jiang
    Department of Neurology, Nagoya University Graduate School of Medicine, Nagoya, Japan
    Ann Neurol 57:236-51. 2005
    ..The motor neuron-specific gene expression profile in sporadic ALS can provide direct information on the genes leading to neurodegeneration and neuronal death and are helpful for developing new therapeutic strategies...
  27. doi request reprint Discrimination of spinal and bulbar muscular atrophy from amyotrophic lateral sclerosis using sensory nerve action potentials
    Tetsuo Hama
    Department of Neurology, Nagoya University Graduate School of Medicine, 65 Tsurumai cho Showa ku, Nagoya 466 8550, Japan
    Muscle Nerve 45:169-74. 2012
    ..We hypothesized that a sensory nerve conduction study (NCS) could be used to discriminate SBMA from ALS...
  28. doi request reprint IgM MGUS anti-MAG neuropathy with predominant muscle weakness and extensive muscle atrophy
    Yuichi Kawagashira
    Department of Neurology, Nagoya University Graduate School of Medicine, Nagoya, Japan
    Muscle Nerve 42:433-5. 2010
    ..Sural nerve biopsy revealed widely spaced myelin and positive staining of myelinated fibers with an IgM antibody. Predominant motor symptoms with muscle atrophy can be one of the clinical manifestations of anti-MAG neuropathy...
  29. doi request reprint 17-DMAG ameliorates polyglutamine-mediated motor neuron degeneration through well-preserved proteasome function in an SBMA model mouse
    Keisuke Tokui
    Department of Neurology, Nagoya University Graduate School of Medicine, 65 Tsurumai Cho, Showa Ku, Nagoya 466 8550, Japan
    Hum Mol Genet 18:898-910. 2009
    ..17-DMAG also significantly induced Hsp70 and Hsp40. Thus, 17-DMAG would exert a therapeutic effect on SBMA via preserved proteasome function...
  30. ncbi request reprint Sodium butyrate ameliorates phenotypic expression in a transgenic mouse model of spinal and bulbar muscular atrophy
    Makoto Minamiyama
    Department of Neurologu, Nagoya University Graduate School of Medicine, Nagoya, Japan
    Hum Mol Genet 13:1183-92. 2004
    ..Our results indicate that SB is a possible therapeutic agent for SBMA and other polyQ diseases, although an appropriate dose should be determined for clinical application...
  31. doi request reprint Progressive and widespread brain damage in ALS: MRI voxel-based morphometry and diffusion tensor imaging study
    Joe Senda
    Department of Neurology, Nagoya University Graduate School of Medicine, Nagoya, Japan
    Amyotroph Lateral Scler 12:59-69. 2011
    ..In particular, follow-up examinations in these patients showed that whole-brain DTI changes occurred predominantly in the regions of brain atrophy. These objective analyses can be used to assess the disease condition of the ALS brain...
  32. doi request reprint Distinct characteristics of amyloid deposits in early- and late-onset transthyretin Val30Met familial amyloid polyneuropathy
    Haruki Koike
    Department of Neurology, Nagoya University Graduate School of Medicine, Nagoya, Japan
    J Neurol Sci 287:178-84. 2009
    ..Amyloid deposition in late-onset cases may be similar to that observed in senile systemic amyloidosis with wild-type TTR deposition, suggesting that aging may play an important role in these cases...
  33. ncbi request reprint Widespread nuclear and cytoplasmic accumulation of mutant androgen receptor in SBMA patients
    Hiroaki Adachi
    Department of Neurology, Nagoya University Graduate School of Medicine, Nagoya, Japan
    Brain 128:659-70. 2005
    ..Thus, diffuse nuclear accumulation of mutant AR apparently is a cardinal pathogenetic process underlying neurological manifestations, as in SBMA transgenic mice, while cytoplasmic accumulation may also contribute to SBMA pathophysiology...
  34. doi request reprint The significance of carpal tunnel syndrome in transthyretin Val30Met familial amyloid polyneuropathy
    Haruki Koike
    Department of Neurology, Nagoya University Graduate School of Medicine, Aichi, Japan
    Amyloid 16:142-8. 2009
    ..The electrophysiological abnormality at the distal portion of the median nerve may be a consequence of polyneuropathy rather than an entrapment injury...
  35. ncbi request reprint Pain-related differential expression of NGF, GDNF, IL-6, and their receptors in human vasculitic neuropathies
    Masahiko Yamamoto
    Department of Neurology, Nagoya University Graduate School of Medicine, 65 Tsurumai Cho, Showa Ku, Nagoya 466 8550
    Intern Med 42:1100-3. 2003
    ..Pain-related differential expressions of nerve growth factor (NGF), glial cell line-derived neurotrophic factor (GDNF) and interleukin-6 (IL-6), and their receptors were investigated in human vasculitic neuropathies...
  36. doi request reprint Oxidative stress induced by glutathione depletion reproduces pathological modifications of TDP-43 linked to TDP-43 proteinopathies
    Yohei Iguchi
    Department of Neurology, Nagoya University Graduate School of Medicine, 65 Tsurumai Cho, Showa Ku, Nagoya 466 8550, Japan
    Neurobiol Dis 45:862-70. 2012
    ..Our findings suggest that oxidative stress induced by glutathione depletion is associated with the process of the pathological TDP-43 modifications and provide new insight for TDP-43 proteinopathies...
  37. ncbi request reprint Viral delivery of miR-196a ameliorates the SBMA phenotype via the silencing of CELF2
    Yu Miyazaki
    Department of Neurology, Nagoya University Graduate School of Medicine, Nagoya, Japan
    Nat Med 18:1136-41. 2012
    ..Our results establish the proof of principle that disease-specific miRNA delivery could be useful in neurodegenerative diseases...
  38. ncbi request reprint Caspase-1 and -3 mRNAs are differentially upregulated in motor neurons and glial cells in mutant SOD1 transgenic mouse spinal cord: a study using laser microdissection and real-time RT-PCR
    Yoshio Ando
    Department of Neurology, Nagoya University Graduate School of Medicine, 65 Tsurumai Cho, Showa Ku, Nagoya 466 8550, Japan
    Neurochem Res 28:839-46. 2003
    ..These results indicated that caspase-1 and -3 mRNAs are differentially upregulated in motor neurons and glial cells of the Tg mice, and that mRNAs in isolated cells can be accurately assessed using our procedures...
  39. ncbi request reprint X-Linked inhibitor of apoptosis protein is involved in mutant SOD1-mediated neuronal degeneration
    Shinsuke Ishigaki
    Department of Neurology, Nagoya University Graduate School of Medicine, Nagoya, Japan
    J Neurochem 82:576-84. 2002
    ..These results suggest that XIAP plays a role in the apoptotic mechanism in the progression of disease in mutant SOD1 Tg mice and holds therapeutic possibilities for FALS...
  40. doi request reprint p62/SQSTM1 differentially removes the toxic mutant androgen receptor via autophagy and inclusion formation in a spinal and bulbar muscular atrophy mouse model
    Hideki Doi
    Department of Neurology, Nagoya University Graduate School of Medicine, Showa Ku, Nagoya 466 8550, Japan
    J Neurosci 33:7710-27. 2013
    ..Our results demonstrate that p62 provides two different therapeutic targets in SBMA pathogenesis: (1) autophagy-dependent degradation and (2) benevolent inclusion formation of the mutant AR...
  41. doi request reprint Impact of aging on the progression of neuropathy after liver transplantation in transthyretin Val30Met amyloidosis
    Haruki Koike
    Department of Neurology, Nagoya University Graduate School of Medicine, Nagoya 466 8550, Japan
    Muscle Nerve 46:964-70. 2012
    ..Information related to the long-term follow-up of neuropathy in patients with familial amyloid polyneuropathy after liver transplantation is still scarce...
  42. doi request reprint Naratriptan mitigates CGRP1-associated motor neuron degeneration caused by an expanded polyglutamine repeat tract
    Makoto Minamiyama
    Department of Neurology, Nagoya University Graduate School of Medicine, Nagoya, Japan
    Nat Med 18:1531-8. 2012
    ..These observations suggest that pharmacological activation of the 5-HT1B/1D receptor may be used therapeutically to treat SBMA and other polyglutamine-related neurodegenerative diseases...
  43. ncbi request reprint Leuprorelin rescues polyglutamine-dependent phenotypes in a transgenic mouse model of spinal and bulbar muscular atrophy
    Masahisa Katsuno
    Department of Neurology, Nagoya University Graduate School of Medicine, 65 Tsurumai Cho, Showa Ku, Nagoya 466 8550, Japan
    Nat Med 9:768-73. 2003
    ..Flutamide, an androgen antagonist promoting nuclear translocation of androgen receptors, yielded no therapeutic effect. Leuprorelin thus seems to be a promising candidate for the treatment of SBMA...
  44. ncbi request reprint Phase 2 trial of leuprorelin in patients with spinal and bulbar muscular atrophy
    Haruhiko Banno
    Department of Neurology, Nagoya University Graduate School of Medicine, Aichi, Japan
    Ann Neurol 65:140-50. 2009
    ..Animal studies have shown that the pathogenesis of SBMA is dependent on serum testosterone level. This study is aimed at evaluating the efficacy and safety of androgen deprivation by leuprorelin acetate in patients with SBMA...
  45. doi request reprint The profile of motor unit number estimation (MUNE) in spinal and bulbar muscular atrophy
    Keisuke Suzuki
    Department of Neurology, Nagoya University Graduate School of Medicine, 65 Tsurumai Cho, Showa Ku, Nagoya 466 8550, Japan
    J Neurol Neurosurg Psychiatry 81:567-71. 2010
    ..It is, however, difficult to evaluate clinically the degree of motor neuron degeneration, which stresses the need for biomarkers to detect the remaining neuronal function...
  46. doi request reprint Clinicopathological features of acute autonomic and sensory neuropathy
    Haruki Koike
    Department of Neurology, Nagoya University Graduate School of Medicine, Nagoya, Japan
    Brain 133:2881-96. 2010
    ..Small neuronal cells in the autonomic and sensory ganglia may be affected in the initial phase, and subsequently, large neuronal cells in the sensory ganglia are damaged...
  47. ncbi request reprint Intravenous immunoglobulin treatment for painful sensory neuropathy associated with Sjögren's syndrome
    Saori Morozumi
    Department of Neurology, Nagoya University Graduate School of Medicine, Nagoya, Japan
    J Neurol Sci 279:57-61. 2009
    ..Patients with painful sensory neuropathy associated with Sjögren's syndrome-associated neuropathy often show severe neuropathic pain which is not relieved by conventional treatments...
  48. ncbi request reprint Modulation of Hsp90 function in neurodegenerative disorders: a molecular-targeted therapy against disease-causing protein
    Masahiro Waza
    Department of Neurology, Nagoya University Graduate School of Medicine, 65 Tsurumai Cho, 466 8550 Nagoya, Japan
    J Mol Med (Berl) 84:635-46. 2006
    ..This review will consider our research findings and discuss the possibility of a clinical application of 17-AAG to SBMA and other neurodegenerative diseases...
  49. ncbi request reprint Natural history of spinal and bulbar muscular atrophy (SBMA): a study of 223 Japanese patients
    Naoki Atsuta
    Department of Neurology, Nagoya University Graduate School of Medicine, Nagoya, Japan
    Brain 129:1446-55. 2006
    ..These results provide beneficial information for future clinical therapeutic trials, although further detailed prospective studies are also needed...
  50. ncbi request reprint [Molecular-targeted therapy for motor neuron disease]
    Haruhiko Banno
    Department of Neurology, Nagoya University Graduate School of Medicine, 65 Tsurumai Cho, Showa Ku, Nagoya 466 8550, Japan
    Brain Nerve 61:891-900. 2009
    ..Oral administration of sodium butyrate--a histone deacetylase inhibitor--resulted in the improvement of neurological dysfunction in the SBMA mouse model, although its therapeutic dose range is narrow...
  51. doi request reprint Differential, size-dependent sensory neuron involvement in the painful and ataxic forms of primary Sjögren's syndrome-associated neuropathy
    Yuichi Kawagashira
    Department of Neurology, Nagoya University Graduate School of Medicine, Nagoya 466 8550, Japan
    J Neurol Sci 319:139-46. 2012
    ..This hypothesis may have an impact on therapeutic approach...
  52. doi request reprint Loss of TDP-43 causes age-dependent progressive motor neuron degeneration
    Yohei Iguchi
    Department of Neurology, Nagoya University Graduate School of Medicine, Nagoya 466 8550, Japan
    Brain 136:1371-82. 2013
    ....
  53. ncbi request reprint Heat shock protein 70 chaperone overexpression ameliorates phenotypes of the spinal and bulbar muscular atrophy transgenic mouse model by reducing nuclear-localized mutant androgen receptor protein
    Hiroaki Adachi
    Department of Neurology, Nagoya University Graduate School of Medicine, 65 Tsurumai cho Showa ku, Nagoya 466 8550, Japan
    J Neurosci 23:2203-11. 2003
    ..Our study may provide the basis for the development of an HSP70-related therapy for SBMA and other polyQ diseases...
  54. ncbi request reprint Longitudinal changes of outcome measures in spinal and bulbar muscular atrophy
    Atsushi Hashizume
    Department of Neurology, Nagoya University Graduate School of Medicine, Nagoya, 466 8550, Japan
    Brain 135:2838-48. 2012
    ....
  55. doi request reprint Behavioral changes in early ALS correlate with voxel-based morphometry and diffusion tensor imaging
    Masashi Tsujimoto
    Department of Neurology, Nagoya University Graduate School of Medicine, Japan
    J Neurol Sci 307:34-40. 2011
    ..Amyotrophic lateral sclerosis (ALS) is a multisystem disorder with impairment of frontotemporal functions such as cognition and behavior, but the behavioral changes associated with ALS are not well defined...
  56. doi request reprint An autopsied case of panencephalopathic-type Creutzfeldt-Jakob disease with mutation in the prion protein gene at codon 232 and type 1 prion protein
    Tetsuo Hama
    Department of Neurology, Nagoya University Graduate School of Medicine, Nagoya, Japan
    Neuropathology 29:727-34. 2009
    ..Two different clinical phenotypes of M232R CJD were recognized despite the presence of the same PrP genotype, and the present case is speculated to correspond to the rapid-type...
  57. doi request reprint Urinary 8-hydroxydeoxyguanosine correlate with hallucinations rather than motor symptoms in Parkinson's disease
    Masaaki Hirayama
    Department of Neurology, Nagoya University Graduate School of Medicine, 65 Tsurumai Cho, Showa Ku, Nagoya 466 8550, Japan
    Parkinsonism Relat Disord 17:46-9. 2011
    ..ROS including hydroxyl radicals and H(2)O(2) react with guanine residues in DNA and produce 8-hydroxydeoxyguanosine (8-OHdG). 8-OHdG serves as a biomarker for oxidative stress in various diseases...
  58. pmc Pharmacological induction of heat-shock proteins alleviates polyglutamine-mediated motor neuron disease
    Masahisa Katsuno
    Department of Neurology, Nagoya University Graduate School of Medicine, Showa Ku, Nagoya 466 8550, Japan
    Proc Natl Acad Sci U S A 102:16801-6. 2005
    ..These observations suggest that, although a high dose appears to be needed for clinical effects, oral GGA administration is a safe and promising therapeutic candidate for polyglutamine-mediated neurodegenerative diseases, including SBMA...
  59. ncbi request reprint Type I (transthyretin Met30) familial amyloid polyneuropathy in Japan: early- vs late-onset form
    Haruki Koike
    Department of Neurology, Nagoya University Graduate School of Medicine, Japan
    Arch Neurol 59:1771-6. 2002
    ..We have also reported late-onset Japanese cases unrelated to an endemic focus and showing distinctive clinicopathologic features...
  60. ncbi request reprint Testosterone reduction prevents phenotypic expression in a transgenic mouse model of spinal and bulbar muscular atrophy
    Masahisa Katsuno
    Department of Neurology, Nagoya University Graduate School of Medicine, 65 Tsurumai Cho, Showa Ku, Nagoya, Japan
    Neuron 35:843-54. 2002
    ..Nuclear translocation of the mutant AR by testosterone contributed to the phenotypic difference with gender and the effects of hormonal interventions. These results suggest the therapeutic potential of hormonal intervention for SBMA...
  61. ncbi request reprint [Molecular-targeted therapies for spinal and bulbar muscular atrophy]
    Masahisa Katsuno
    Department of Neurology, Nagoya University Graduate School of Medicine
    Rinsho Shinkeigaku 49:917-20. 2009
    ....
  62. doi request reprint Correlation between pyramidal tract degeneration and widespread white matter involvement in amyotrophic lateral sclerosis: a study with tractography and diffusion-tensor imaging
    Joe Senda
    Department of Neurology, Nagoya University Graduate School of Medicine, 65 Tsurumai ch Showa ku, Nagoya, Japan
    Amyotroph Lateral Scler 10:288-94. 2009
    ..The severity of involvement in the frontal, temporal and parietal white matter correlated with severity in the pyramidal tract...
  63. doi request reprint Efficacy and safety of leuprorelin in patients with spinal and bulbar muscular atrophy (JASMITT study): a multicentre, randomised, double-blind, placebo-controlled trial
    Masahisa Katsuno
    Department of Neurology, Nagoya University Graduate School of Medicine, Nagoya, Japan
    Lancet Neurol 9:875-84. 2010
    ..We aimed to assess the efficacy and safety of leuprorelin for spinal and bulbar muscular atrophy...
  64. pmc TDP-43 depletion induces neuronal cell damage through dysregulation of Rho family GTPases
    Yohei Iguchi
    Department of Neurology, Nagoya University Graduate School of Medicine, Nagoya, Japan
    J Biol Chem 284:22059-66. 2009
    ..In summary, our data suggest that TDP-43 plays a key role in the maintenance of neuronal cell morphology and survival possibly through protein geranylgeranylation of Rho family GTPases...
  65. ncbi request reprint [Development of therapeutics for spinal and bulbar muscular atrophy (SBMA)]
    Gen Sobue
    Department of Neurology, Nagoya University Graduate School of Medicine
    Rinsho Shinkeigaku 43:909-11. 2003
    ..HSP70 appears to enhance the degradation of mutant AR via ubiquitin-proteasome pathway. These experimental approaches indicate the possibility of clinical application of drugs, such as leuprorelin, for SBMA patients...
  66. ncbi request reprint Clinical and radiological impact of liver transplantation for brain in cirrhosis patients without hepatic encephalopathy
    Tetsuro Ishihara
    Department of Neurology, Yokkaichi Municipal Hospital, Mie, Japan
    Clin Neurol Neurosurg 115:2341-7. 2013
    ....
  67. doi request reprint Neck weakness is a potent prognostic factor in sporadic amyotrophic lateral sclerosis patients
    Ryoichi Nakamura
    Department of Neurology, Nagoya University Graduate School of Medicine, Nagoya, Japan
    J Neurol Neurosurg Psychiatry 84:1365-71. 2013
    ..To clarify the emergence of muscle weakness in regions of the body that affect survival, and deterioration in activities of daily living (ADL) in amyotrophic lateral sclerosis (ALS) patients...
  68. ncbi request reprint Mutant androgen receptor accumulation in spinal and bulbar muscular atrophy scrotal skin: a pathogenic marker
    Haruhiko Banno
    Department of Neurology, Nagoya University Graduate School of Medicine, Showa Ku, Nagoya, Japan
    Ann Neurol 59:520-6. 2006
    ..This study aimed to investigate whether mutant AR accumulation in the scrotal skin is an appropriate biomarker of SBMA...
  69. doi request reprint Does cardiovascular autonomic dysfunction contribute to fatigue in Parkinson's disease?
    Tomohiko Nakamura
    Department of Neurology, Nagoya University Graduate School of Medicine, Nagoya, Japan
    Mov Disord 26:1869-74. 2011
    ..Our results suggest that autonomic dysfunction, including cardiac sympathetic denervation, is associated with fatigue in patients with Parkinson's disease...
  70. doi request reprint Pupillary autonomic dysfunction in multiple system atrophy and Parkinson's disease: an assessment by eye-drop tests
    Fumitada Yamashita
    Department of Neurology, Nagoya University Graduate School of Medicine, Nagoya 466 8550, Japan
    Clin Auton Res 20:191-7. 2010
    ..To compare pupillary autonomic dysfunction in multiple system atrophy (MSA) and Parkinson's disease (PD)...
  71. ncbi request reprint Lowered cardiac sympathetic nerve performance in response to exercise in Parkinson's disease
    Tomohiko Nakamura
    Department of Neurology, Nagoya University Graduate School of Medicine, Showa Ku, Nagoya, Japan
    Mov Disord 25:1183-9. 2010
    ....
  72. ncbi request reprint Nonmyelinating Schwann cell involvement with well-preserved unmyelinated axons in Charcot-Marie-Tooth disease type 1A
    Haruki Koike
    Department of Neurology, Nagoya University Graduate School of Medicine, Nagoya, Japan
    J Neuropathol Exp Neurol 66:1027-36. 2007
    ..In conclusion, there is marked alteration of the population and morphology of nonmyelinating Schwann cells, and axon-Schwann cell interactions seem to be regulated differently between myelinated and unmyelinated fibers in CMT1A...
  73. ncbi request reprint Widespread spinal cord involvement in progressive supranuclear palsy
    Yasushi Iwasaki
    Department of Neurology, Nagoya University Graduate School of Medicine, 65 Tsurumai Cho, Showa Ku, Nagoya 466 8550, Japan
    Neuropathology 27:331-40. 2007
    ..We speculate that spinal interneurons and their neuronal processes, particularly in the medial division of the anterior horn and intermediate gray matter of the cervical segment, are most severely damaged in the PSP spinal cord...
  74. ncbi request reprint Clinical features and molecular mechanisms of spinal and bulbar muscular atrophy (SBMA)
    Masahisa Katsuno
    Department of Neurology, Nagoya University Graduate School of Medicine, 65 Tsurumai Cho, Showa Ku, Nagoya 466 8550, Japan
    Adv Exp Med Biol 685:64-74. 2010
    ..Results of animal studies suggest that androgen deprivation and activation of protein quality control systems are potential therapies for SBMA...
  75. doi request reprint Spatial distribution of nerve fiber pathology and vasculitis in microscopic polyangiitis-associated neuropathy
    Saori Morozumi
    Department of Neurology, Nagoya University Graduate School of Medicine, Nagoya, Japan
    J Neuropathol Exp Neurol 70:340-8. 2011
    ....
  76. ncbi request reprint Rapidly developing weakness mimicking Guillain-Barré syndrome in beriberi neuropathy: two case reports
    Haruki Koike
    Department of Neurology, Nagoya University School of Medicine, Nagoya, Japan
    Nutrition 24:776-80. 2008
    ..We examined the diagnostic difficulty in thiamine deficiency...
  77. ncbi request reprint Mitochondrial localization of mutant superoxide dismutase 1 triggers caspase-dependent cell death in a cellular model of familial amyotrophic lateral sclerosis
    Hideyuki Takeuchi
    Department of Neurology, Nagoya University Graduate School of Medicine, 65 Tsurumai Cho, Showa Ku, Nagoya 466 8550, Japan
    J Biol Chem 277:50966-72. 2002
    ..These results suggest that the localization of mutant SOD1 in the mitochondria is critical in the pathogenesis of mutant SOD1-associated familial amyotrophic lateral sclerosis...
  78. ncbi request reprint Neuropathologic characteristics of spinal cord lesions in sporadic Creutzfeldt-Jakob disease
    Yasushi Iwasaki
    Department of Neurology, Nagoya University Graduate School of Medicine, Showa Ku, 466 8550 Nagoya, Japan
    Acta Neuropathol 110:490-500. 2005
    ....
  79. doi request reprint Morphological progression of myelin abnormalities in IgM-monoclonal gammopathy of undetermined significance anti-myelin-associated glycoprotein neuropathy
    Yuichi Kawagashira
    Department of Neurology, Nagoya University Graduate School of Medicine, Nagoya, Japan
    J Neuropathol Exp Neurol 69:1143-57. 2010
    ..Loosening of compact myelin seems to contribute to tomacula formation...
  80. ncbi request reprint Autopsy case of sporadic Creutzfeldt-Jakob disease presenting with signs suggestive of brainstem and spinal cord involvement
    Yasushi Iwasaki
    Department of Neurology, Nagoya University Graduate School of Medicine, Nagoya, Japan
    Neuropathology 26:550-6. 2006
    ....
  81. doi request reprint Heat shock proteins in neurodegenerative diseases: pathogenic roles and therapeutic implications
    Hiroaki Adachi
    Department of Neurology, Nagoya University Graduate School of Medicine, Showa Ku, Nagoya, Japan
    Int J Hyperthermia 25:647-54. 2009
    ..e., Hsp90 inhibitor and HSP inducer, which inhibit the pathogenic process of neuronal degeneration. These findings may provide the basis for development of an HSP-related therapy for neurodegenerative diseases...
  82. doi request reprint Putaminal magnetic resonance imaging features at various magnetic field strengths in multiple system atrophy
    Hirohisa Watanabe
    Department of Neurology, Nagoya University Graduate School of Medicine, Nagoya, Japan
    Mov Disord 25:1916-23. 2010
    ..Putaminal magnetic resonance imaging (MRI) findings in MSA were altered considerably by magnetic field strength. The severity and distribution of signal changes are important for assessing putaminal MRI findings in MSA...
  83. ncbi request reprint Dobutamine stress test unmasks cardiac sympathetic denervation in Parkinson's disease
    Tomohiko Nakamura
    Department of Neurology, Nagoya University Graduate School of Medicine, 65 Tsurumai Cho, Showa Ku, Nagoya 466 8550, Japan
    J Neurol Sci 263:133-8. 2007
    ..However, the cardiac sympathetic abnormality associated with this reduction is unclear. To unmask this abnormality in PD patients we examined the functional consequences of cardiac beta-receptor activation...
  84. ncbi request reprint [Integrated molecular medicine for neuronal and neoplastic disorders]
    Fumiaki Tanaka
    Department of Neurology, Nagoya University Graduate School of Medicine, 65 Tsurumai Cho, Showa Ku, Nagoya 466 8550, Japan
    Seikagaku 79:121-30. 2007
  85. ncbi request reprint Alteration of familial ALS-linked mutant SOD1 solubility with disease progression: its modulation by the proteasome and Hsp70
    Shingo Koyama
    Department of Neurology, Hematology, Metabolism, Endocrinology and Diabetology, Yamagata University School of Medicine, 2 2 2 Iida nishi, Yamagata 990 9585, Japan
    Biochem Biophys Res Commun 343:719-30. 2006
    ..SDS-soluble low molecular weight species of H46R SOD1 may appear as early misfolded intermediates when their concentration exceeds the capacity of the proteasome and molecular chaperones...
  86. ncbi request reprint The video images of sleep attacks in Parkinson's disease
    Masaaki Hirayama
    Department of Neurology, Nagoya University Graduate School of Medicine, Nagoya, Aichi, Japan
    Mov Disord 23:288-90. 2008
    ..Her family recorded this attack with a video camera. This sleep attack resolved with control of her medication. This is the first report of video images of a sleep attack due to excessive levodopa and a dopamine agonist...
  87. ncbi request reprint Motor conduction studies in Miller Fisher syndrome with severe tetraparesis
    Masahisa Katsuno
    Department of Neurology, Nagoya Daini Red Cross Hospital, Nagoya, Japan
    Muscle Nerve 25:378-82. 2002
    ..Motor conduction parameters were abnormal in 13 of 14 patients with GBS, and showed demyelinating features in 10. Our results suggest that the pathophysiology of tetraparesis in MFS differs from that in GBS...
  88. doi request reprint Systemic but asymptomatic transthyretin amyloidosis 8 years after domino liver transplantation
    Haruki Koike
    Department of Neurology, Nagoya University Graduate School of Medicine, Nagoya 466 8550, Japan
    J Neurol Neurosurg Psychiatry 82:1287-90. 2011
    ..This case allows for the characterisation of amyloid deposition during the asymptomatic stage of FAP. Widespread amyloid deposition may occur before tissue damage in this disease...
  89. ncbi request reprint [Motor neuron disease]
    Jun ichi Niwa
    Tanpakushitsu Kakusan Koso 49:1127-8. 2004
  90. doi request reprint Polymorphism of transient axonal glycoprotein-1 in chronic inflammatory demyelinating polyneuropathy
    Masahiro Iijima
    Department of Neurology, Nagoya University Graduate School of Medicine, Nagoya, Japan
    J Peripher Nerv Syst 16:52-5. 2011
    ..In conclusion, SNPs in TAG-1, which is a key molecule for axon-Schwann cell interactions and is distributed at the juxtaparanode, are related to the IVIg responsiveness of CIDP patients...
  91. ncbi request reprint [Clinical phenotype of Charcot-Marie-Tooth disease (CMT) and familial amyloid polyneuropathy (FAP)]
    Gen Sobue
    Department of Neurology, Nagoya University Graduate School of Medicine
    Rinsho Shinkeigaku 43:769-74. 2003
    ....
  92. ncbi request reprint Differential expression of inflammation- and apoptosis-related genes in spinal cords of a mutant SOD1 transgenic mouse model of familial amyotrophic lateral sclerosis
    Tsuyoshi Yoshihara
    Department of Neurology, Nagoya University Graduate School of Medicine, Nagoya, Japan
    J Neurochem 80:158-67. 2002
    ..Thus, ALS has paralleled other neurodegenerative disorders, such as Alzheimer's and prion diseases, in which the inflammatory process is believed to participate directly in neuronal death...
  93. pmc Blockade of gap junction hemichannel suppresses disease progression in mouse models of amyotrophic lateral sclerosis and Alzheimer's disease
    Hideyuki Takeuchi
    Department of Neuroimmunology, Research Institute of Environmental Medicine, Nagoya University, Furo cho, Chikusa ku, Nagoya, Japan
    PLoS ONE 6:e21108. 2011
    ..Hence, blockade of gap junction hemichannel may be potentially beneficial in treatment of neurodegenerative diseases...
  94. ncbi request reprint Follow the patient: process and outcome evaluation of medical students' educational experiences accompanying outpatients
    Kei Mukohara
    Department of General Medicine, Nagoya University Graduate School of Medicine, Nagoya, Japan
    Med Educ 40:158-65. 2006
    ..To instill patient-centred attitudes in medical students, several medical schools in Japan have recently started to offer educational experiences in which medical students accompany outpatients throughout entire visits to hospitals...
  95. doi request reprint Disrupted transforming growth factor-beta signaling in spinal and bulbar muscular atrophy
    Masahisa Katsuno
    Department of Neurology, Nagoya University Graduate School of Medicine, Nagoya 466 8550, Japan
    J Neurosci 30:5702-12. 2010
    ..The present study thus indicates that disruption of TGF-beta due to the transcriptional dysregulation of TbetaRII is associated with polyglutamine-induced motor neuron damage in SBMA...
  96. doi request reprint Pupillary supersensitivity and visual disturbance in Parkinson's disease
    Norio Hori
    Department of Neurology, Nagoya University Graduate School of Medicine, Nagoya 466 8550, Japan
    Clin Auton Res 18:20-7. 2008
    ..PD patients have both parasympathetic and sympathetic postganglionic impairments affecting the pupil. Our findings demonstrate that parasympathetic dysfunction contributes significantly to visual disturbance in PD...
  97. ncbi request reprint Molecular genetics and biomarkers of polyglutamine diseases
    Masahisa Katsuno
    Institute for Advanced Research, Nagoya University, Furo cho, Chikusa ku, Nagoya 464 8601, Japan
    Curr Mol Med 8:221-34. 2008
    ..To optimize "proof of concept", the process for testing candidate therapies in humans, it is of importance to identify biomarkers which can be used as surrogate endpoints in clinical trials for polyglutamine diseases...
  98. pmc Neuropathology and therapeutic intervention in spinal and bulbar muscular atrophy
    Haruhiko Banno
    Department of Neurology, Nagoya University Graduate School of Medicine, Showa Ku, Japan
    Int J Mol Sci 10:1000-12. 2009
    ..Heat shock proteins, ubiquitin-proteasome system and transcriptional regulation are also potential targets of therapy development for SBMA...
  99. ncbi request reprint Obstructive sleep apnea syndrome (OSAS) presenting as cerebral venous thrombosis
    Naohide Kondo
    Department of Neurology, Nagoya University Graduate School of Medicine, Nagoya
    Intern Med 48:1837-40. 2009
    ..Noninvasive continuous positive airway pressure (CPAP) therapy prevented the recurrence of CVT as well as of headache. OSAS may be one of the multiple risk factors of CVT as well as arterial ischemic stroke...
  100. ncbi request reprint Classic polyarteritis nodosa presenting rare clinical manifestations in a patient with hemophilia A
    Tadashi Matsushita
    Department of Hematology, Nagoya University Graduate School of Medicine, Nagoya, Japan
    Int J Hematol 83:420-5. 2006
    ..Concomitant hemorrhagic and thrombotic manifestations of cPAN are hardly treatable in patients with coagulation disorders, and the current case may represent a rare transfusion-related complication in hemophilia patients...
  101. ncbi request reprint Archaeal proteasomes effectively degrade aggregation-prone proteins and reduce cellular toxicities in mammalian cells
    Shin ichi Yamada
    Department of Neurology, Nagoya University Graduate School of Medicine, 65 Tsurumai Cho, Showa Ku, Nagoya City, Aichi 466 8550, Japan
    J Biol Chem 281:23842-51. 2006
    ..Our study showed that archaeal proteasomes can degrade aggregation-prone proteins whose toxic gain of function causes neurodegradation and reduce protein cellular toxicity...