I Yabe

Summary

Affiliation: Hokkaido University
Country: Japan

Publications

  1. pmc Hyperintense putaminal rim at 1.5 T: prevalence in normal subjects and distinguishing features from multiple system atrophy
    Khin K Tha
    Department of Radiobiology and Medical Engineering, Hokkaido University Graduate School of Medicine, N 15, W 7, Sapporo 060 8638, Japan
    BMC Neurol 12:39. 2012
  2. doi request reprint Writing errors in ALS related to loss of neuronal integrity in the anterior cingulate gyrus
    Ichiro Yabe
    Department of Neurology, Hokkaido University Graduate School of Medicine, Sapporo, Japan
    J Neurol Sci 315:55-9. 2012
  3. pmc Copy number loss of (src homology 2 domain containing)-transforming protein 2 (SHC2) gene: discordant loss in monozygotic twins and frequent loss in patients with multiple system atrophy
    Hidenao Sasaki
    Department of Neurology, Graduate School of Medicine, Hokkaido University, North 15, West 7, Kita ku, Sapporo 060 8638, Japan
    Mol Brain 4:24. 2011
  4. pmc An examination of the Apo-1/Fas promoter Mva I polymorphism in Japanese patients with multiple sclerosis
    Masaaki Niino
    Department of Neurology, Hokkaido University Graduate School of Medicine, Kita 15 Nishi 7, Kita ku, Sapporo, 060 8638, Japan
    BMC Neurol 2:8. 2002
  5. ncbi request reprint GNE mutations causing distal myopathy with rimmed vacuoles with inflammation
    I Yabe
    Department of Neurology, Hokkaido University Graduate School of Medicine, Sapporo 060 8638, Japan
    Neurology 61:384-6. 2003
  6. ncbi request reprint Familial syringomyelia: the first Japanese case and review of the literature
    Ichiro Yabe
    Department of Neurology, Hokkaido University Graduate School of Medicine, N15 W7, Kita ku, Sapporo 060 8638, Japan
    Clin Neurol Neurosurg 105:69-71. 2002
  7. ncbi request reprint MSA-C is the predominant clinical phenotype of MSA in Japan: analysis of 142 patients with probable MSA
    Ichiro Yabe
    Department of Neurology, Hokkaido University, Graduate School of Medicine, Sapporo, Hokkaido 060 8368, Japan
    J Neurol Sci 249:115-21. 2006
  8. ncbi request reprint Caveolin-3 gene mutation in Japanese with rippling muscle disease
    I Yabe
    Department of Neurology, Hokkaido University Graduate School of Medicine, Kita ku, Sapporo, and Hokkaido Neurology Hospital, Nijyuyonken, Japan
    Acta Neurol Scand 108:47-51. 2003
  9. doi request reprint Downbeat positioning nystagmus is a common clinical feature despite variable phenotypes in an FHM1 family
    Ichiro Yabe
    Department of Neurology, Hokkaido University Graduate School of Medicine, N15 W7 Kita ku, Sapporo 060 8638, Japan
    J Neurol 255:1541-4. 2008
  10. ncbi request reprint CTLA-4 gene polymorphism may modulate disease in Japanese multiple sclerosis patients
    T Fukazawa
    Hokuyukai Neurology Hospital, Niju Yon Ken 2 2 4 30, Nishi ku, Sapporo, Japan
    J Neurol Sci 171:49-55. 1999

Detail Information

Publications75

  1. pmc Hyperintense putaminal rim at 1.5 T: prevalence in normal subjects and distinguishing features from multiple system atrophy
    Khin K Tha
    Department of Radiobiology and Medical Engineering, Hokkaido University Graduate School of Medicine, N 15, W 7, Sapporo 060 8638, Japan
    BMC Neurol 12:39. 2012
    ..5 T is not known. This study aimed to determine whether HPR could be observed in normal subjects at 1.5 T; and if so, to establish its prevalence, the MRI characteristics, and the features which distinguish from HPR in MSA patients...
  2. doi request reprint Writing errors in ALS related to loss of neuronal integrity in the anterior cingulate gyrus
    Ichiro Yabe
    Department of Neurology, Hokkaido University Graduate School of Medicine, Sapporo, Japan
    J Neurol Sci 315:55-9. 2012
    ..1). The results showed that writing errors in our patients with ALS were related to dysfunction in the anterior cingulate gyrus...
  3. pmc Copy number loss of (src homology 2 domain containing)-transforming protein 2 (SHC2) gene: discordant loss in monozygotic twins and frequent loss in patients with multiple system atrophy
    Hidenao Sasaki
    Department of Neurology, Graduate School of Medicine, Hokkaido University, North 15, West 7, Kita ku, Sapporo 060 8638, Japan
    Mol Brain 4:24. 2011
    ..To identify genomic alterations increasing the risk for MSA, we examined a pair of monozygotic (MZ) twins discordant for the MSA phenotype and 32 patients with MSA...
  4. pmc An examination of the Apo-1/Fas promoter Mva I polymorphism in Japanese patients with multiple sclerosis
    Masaaki Niino
    Department of Neurology, Hokkaido University Graduate School of Medicine, Kita 15 Nishi 7, Kita ku, Sapporo, 060 8638, Japan
    BMC Neurol 2:8. 2002
    ..The Apo-1/Fas gene is located in a chromosomal region that shows linkage in multiple sclerosis (MS) genome screens, and studies indicate that there is aberrant expression of the Apo-1/Fas molecule in MS...
  5. ncbi request reprint GNE mutations causing distal myopathy with rimmed vacuoles with inflammation
    I Yabe
    Department of Neurology, Hokkaido University Graduate School of Medicine, Sapporo 060 8638, Japan
    Neurology 61:384-6. 2003
    ..Gene analysis revealed a compound heterozygous mutation in these individuals, characterized by V572L and I472T...
  6. ncbi request reprint Familial syringomyelia: the first Japanese case and review of the literature
    Ichiro Yabe
    Department of Neurology, Hokkaido University Graduate School of Medicine, N15 W7, Kita ku, Sapporo 060 8638, Japan
    Clin Neurol Neurosurg 105:69-71. 2002
    ..Twenty-one families with syringomyelia have been reported. The existence of these families indicates that genetic factors may play in role to the pathogenesis of this disorder...
  7. ncbi request reprint MSA-C is the predominant clinical phenotype of MSA in Japan: analysis of 142 patients with probable MSA
    Ichiro Yabe
    Department of Neurology, Hokkaido University, Graduate School of Medicine, Sapporo, Hokkaido 060 8368, Japan
    J Neurol Sci 249:115-21. 2006
    ..This difference of disease manifestations between ethnic groups suggests that genetic factors may influence the clinical phenotype of MSA...
  8. ncbi request reprint Caveolin-3 gene mutation in Japanese with rippling muscle disease
    I Yabe
    Department of Neurology, Hokkaido University Graduate School of Medicine, Kita ku, Sapporo, and Hokkaido Neurology Hospital, Nijyuyonken, Japan
    Acta Neurol Scand 108:47-51. 2003
    ..Recently a caveolin-3 gene (CAV3) mutation was identified in patients with autosomal dominant RMD. The objective of this study was to determine whether a similar mutation was present in two Japanese families with this condition...
  9. doi request reprint Downbeat positioning nystagmus is a common clinical feature despite variable phenotypes in an FHM1 family
    Ichiro Yabe
    Department of Neurology, Hokkaido University Graduate School of Medicine, N15 W7 Kita ku, Sapporo 060 8638, Japan
    J Neurol 255:1541-4. 2008
    ..Although clinical features associated with the T666M CACNA1A mutation are highly variable, downbeat positioning nystagmus may be an important clinical feature of this disease...
  10. ncbi request reprint CTLA-4 gene polymorphism may modulate disease in Japanese multiple sclerosis patients
    T Fukazawa
    Hokuyukai Neurology Hospital, Niju Yon Ken 2 2 4 30, Nishi ku, Sapporo, Japan
    J Neurol Sci 171:49-55. 1999
    ..This CTLA-4 polymorphism may modulate the prognosis of patients with MS and may be relevant to generation of OCB in the CSF...
  11. ncbi request reprint HLA-related subpopulations of MS in Japanese with and without oligoclonal IgG bands. Human leukocyte antigen
    S Kikuchi
    Department of Neurology, Hokkaido University Graduate School of Medicine, Sapporo, Japan
    Neurology 60:647-51. 2003
    ....
  12. ncbi request reprint Association of vitamin D receptor gene polymorphism with multiple sclerosis in Japanese
    T Fukazawa
    Hokuyukai Neurology Hospital, Sapporo, Japan
    J Neurol Sci 166:47-52. 1999
    ....
  13. ncbi request reprint Estrogen receptor gene polymorphism in Japanese patients with multiple sclerosis
    M Niino
    Department of Neurology, Hokkaido University Graduate School of Medicine, Kita 15 Nishi 7, Kita ku, 060 8638, Sapporo, Japan
    J Neurol Sci 179:70-5. 2000
    ..ERG polymorphism should be further studied in other populations to improve strategies for treatment of MS...
  14. ncbi request reprint Heat shock protein 70 gene polymorphism in Japanese patients with multiple sclerosis
    M Niino
    Department of Neurology, Hokkaido University Graduate School of Medicine, Sapporo, Japan
    Tissue Antigens 58:93-6. 2001
    ..Our data indicate that HSP70 gene polymorphisms are not relevant in the susceptibility to or the severity of Japanese MS patients...
  15. ncbi request reprint Genomic HLA profiles of MS in Hokkaido, Japan: important role of DPB1*0501 allele
    T Fukazawa
    Hokuyukai Neurology Hospital, Sapporo, Japan
    J Neurol 247:175-8. 2000
    ..58%, P = 0.0084), although the differences were not statistically significant. Our results indicate that OS-MS is a DPB 1*0501-associated subgroup of MS, and that DPB1*0501 is also correlated with risk of conventional MS in Japanese...
  16. ncbi request reprint Vitamin D receptor gene polymorphism in multiple sclerosis and the association with HLA class II alleles
    M Niino
    Department of Neurology, Hokkaido University Graduate School of Medicine, Kita 15 Nishi 7, Kita ku, 060 8638, Sapporo, Japan
    J Neurol Sci 177:65-71. 2000
    ..0308 and P(corr)=0.0033, respectively). These results indicate that VDRG polymorphism may be associated with susceptibility to MS, and HLA alleles may correlate with risk for MS together with VDRG...
  17. ncbi request reprint Polymorphisms of apolipoprotein E and Japanese patients with multiple sclerosis
    M Niino
    Department of Neurology, Hokkaido University Graduate School of Medicine, Kita 15 Nishi 7, Kita ku, Sapporo 060 8638, Japan
    Mult Scler 9:382-6. 2003
    ..Although the low rate of epsilon4 allele in Japan should be taken into consideration, our results showed no relation between APOE gene polymorphisms and Japanese patients with MS...
  18. ncbi request reprint Prevalence of triplet repeat expansion in ataxia patients from Hokkaido, the northernmost island of Japan
    H Sasaki
    Department of Neurology, Hokkaido University School of Medicine, N 15 W 7, Kita ku, Sapporo, Japan
    J Neurol Sci 175:45-51. 2000
    ..Comparison of our results with those from other centers handling SCA showed that MJD is prevalent throughout Japan, but the frequencies of other dominant SCAs differ considerably even within Japan...
  19. ncbi request reprint Genetic polymorphisms of IL-1beta and IL-1 receptor antagonist in association with multiple sclerosis in Japanese patients
    M Niino
    Department of Neurology, Hokkaido University Graduate School of Medicine, Kita 15 Nishi 7, Kita ku, 060 8638, Sapporo, Japan
    J Neuroimmunol 118:295-9. 2001
    ..Together, our findings suggest that IL-1beta or IL-1ra gene polymorphisms may not be relevant in the susceptibility to MS or the clinical characteristics of Japanese patients with MS...
  20. ncbi request reprint An examination of the association between beta2 adrenergic receptor polymorphisms and multiple sclerosis
    M Niino
    Department of Neurology, Hokkaido University Graduate School of Medicine, Kita 15 Nishi 7, Kita ku, Sapporo 060 8638, Japan
    Mult Scler 8:475-8. 2002
    ..Together, our findings suggest that the presence of beta2AR gene polymorphisms may be inconclusive in the susceptibility to MS or in the clinical characteristics of Japanese patients with MS and, therefore, need further studies...
  21. ncbi request reprint TNF-related apoptosis inducing ligand (TRAIL) gene polymorphism in Japanese patients with multiple sclerosis
    Seiji Kikuchi
    Department of Neurology, Hokkaido University Graduate School of Medicine, Kita 15 Nishi 7, Kita ku, Sapporo 060 8638, Japan
    J Neuroimmunol 167:170-4. 2005
    ..453-3.943). There were no significant associations between +1595 polymorphism and the clinical features of MS. The results indicate that the presence of the CC genotype at position 1595 in exon 5 represents a higher risk of MS...
  22. ncbi request reprint The hereditary spinocerebellar ataxias in Japan
    H Sasaki
    Department of Neurology, Hokkaido University Graduate School of Medicine, Sapporo, Japan
    Cytogenet Genome Res 100:198-205. 2003
    ..Among the recessive SCAs, patients with AVED and EAOH have been detected. However, FRDA associated with GAA repeat expansion in the frataxin gene has not been reported so far...
  23. ncbi request reprint C-C chemokine receptor 2 gene polymorphism in Japanese patients with multiple sclerosis
    Ryuji Miyagishi
    Department of Neurology, Hokkaido University Graduate School of Medicine, Kita 15 Nishi 7, Kita, Sapporo 060 8638, Hokkaido, Japan
    J Neuroimmunol 145:135-8. 2003
    ..0204). There were no significant associations between CCR2 polymorphism and the clinical features of MS. Our results indicate that the presence of CCR2-64I allele seems to provide protection against the development of MS...
  24. ncbi request reprint Clinical trial of acetazolamide in SCA6, with assessment using the Ataxia Rating Scale and body stabilometry
    I Yabe
    Department of Neurology, Hokkaido University School of Medicine, Sapporo 060-8638, Japan
    Acta Neurol Scand 104:44-7. 2001
    ..However, the response became weaker after 1 year of treatment. CONCLUSION: Although this was an open trial, the results suggested that acetazolamide can temporarily reduce the severity of symptoms during the progression of SCA6...
  25. ncbi request reprint An assessment of the association between IL-2 gene polymorphisms and Japanese patients with multiple sclerosis
    Seiji Kikuchi
    Department of Neurology, Hokkaido University Graduate School of Medicine, Kita 15 Nishi 7, Kita ku, 060 8638 Sapporo, Japan
    J Neurol Sci 205:47-50. 2002
    ..Together, our findings suggest that IL-2 gene polymorphisms do not influence the susceptibility to MS or the clinical characteristics of MS in Japanese patients...
  26. ncbi request reprint A novel locus for dominant cerebellar ataxia (SCA14) maps to a 10.2-cM interval flanked by D19S206 and D19S605 on chromosome 19q13.4-qter
    I Yamashita
    Department of Neurology, Hokkaido University School of Medicine, Sapporo, Japan
    Ann Neurol 48:156-63. 2000
    ..2-cM interval flanked by D19S206 and D19S605 on chromosome 19q13.4-qter (Zmax = 4.08, corrected for age-dependent penetrance)...
  27. doi request reprint MERRF/MELAS overlap syndrome: a double pathogenic mutation in mitochondrial tRNA genes
    M Nakamura
    Department of Neurology, Hokkaido University Graduate School of Medicine, N15W7, Kita ku, Sapporo 060 8638, Japan
    J Med Genet 47:659-64. 2010
    ..Although previous analyses of double mutations in mitochondrial DNA (mtDNA) were useful for discussing their nature, many unsolved questions remain...
  28. pmc Spastin gene mutation in Japanese with hereditary spastic paraplegia
    I Yabe
    Department of Neurology, Hokkaido University Graduate School of Medicine, N 15 W 7, Kita ku, Sapporo 060 8638, Japan
    J Med Genet 39:e46. 2002
  29. ncbi request reprint Effect of proteasome inhibitor on cultured mesencephalic dopaminergic neurons
    Seiji Kikuchi
    Department of Neurology, Hokkaido University School of Medicine, Kita 15, Nishi 7, Kita ku, Hokkaido, Sapporo, Japan
    Brain Res 964:228-36. 2003
    ..Our results suggest that proteasome inhibition causes the neurotoxicity in mesencephalic neurons, but that is not sufficient to reproduce the selective damage to dopaminergic neurons, such as that seen in PD...
  30. doi request reprint Microstructural white matter abnormalities of multiple system atrophy: in vivo topographic illustration by using diffusion-tensor MR imaging
    Khin K Tha
    Department of Radiology, Hokkaido University Graduate School of Medicine, N 15, W 7, Kita ku, Sapporo 060 8638, Japan
    Radiology 255:563-9. 2010
    ..To determine whether diffusion-tensor (DT) imaging can demonstrate microstructural white matter abnormalities of multiple system atrophy (MSA) and to correlate these imaging findings with clinical signs and symptoms...
  31. ncbi request reprint Treatment of cerebellar ataxia with 5-HT1A agonist
    Asako Takei
    Hokuyukai Neurology Hospital, Niju yon ken, Nishi ku, Sapporo, Japan
    Cerebellum 4:211-5. 2005
    ..Responsive patients exhibited only mild ataxia. The doses of 5-HT1A agonists that have been used successfully ranged from 12.5 mg/day to 60 mg/day (or 1 mg/kg), and were well tolerated by most patients...
  32. ncbi request reprint Proteasome inhibition induces selective motor neuron death in organotypic slice cultures
    Sachiko Tsuji
    Department of Neurology, Hokkaido University Graduate School of Medicine, Kita ku, Sapporo, Japan
    J Neurosci Res 82:443-51. 2005
    ..01). We postulate that proteasome inhibition is an excellent model for studying the mechanisms underlying selective motor neuron death and searching for new therapeutic strategies in the treatment of ALS...
  33. ncbi request reprint Chronic inflammatory demyelinating polyneuropathy after treatment with interferon-alpha
    Makoto Hirotani
    Department of Neurology, Hokkaido University Graduate School of Medicine, Sapporo
    Intern Med 48:373-5. 2009
    ..This case may therefore provide an important clue to understand the immune mechanism of CIDP and IFN-alpha...
  34. ncbi request reprint Beneficial effects of tandospirone on ataxia of a patient with Machado-Joseph disease
    Asako Takei
    Hokuyukai Neurology Hospital, Sapporo, Japan
    Psychiatry Clin Neurosci 56:181-5. 2002
    ..In addition, his leg pain, insomnia, anorexia, and depression, which are thought to be related to 5-HT1A receptors, were also remarkably alleviated by treatment with tandospirone...
  35. doi request reprint FDG-PET SUV can distinguish between spinal sarcoidosis and myelopathy with canal stenosis
    Ken Sakushima
    Department of Neurology, Hokkaido University Graduate School of Medicine, Kita 15, Nishi 7, Kita ku, Sapporo, 060 8638, Japan
    J Neurol 258:227-30. 2011
    ..FDG-PET is informative for the accurate diagnosis of spinal cord sarcoidosis and may enable clinicians to start treatment at an earlier stage...
  36. ncbi request reprint Estrogen receptor gene polymorphism and multiple sclerosis in Japanese patients: interaction with HLA-DRB1*1501 and disease modulation
    Seiji Kikuchi
    Department of Neurology, Hokkaido University Graduate School of Medicine, Kita 15 Nshi 7, Kita ku, Sapporo 060 8638, Japan
    J Neuroimmunol 128:77-81. 2002
    ..0001). The [P] allele-positive patients with disease duration of more than 5 years had a significantly higher progression index (PI) of disability (p=0.0230) and a worse ranked MS severity score (p=0.0152) than their non-[P] counterparts...
  37. ncbi request reprint Brefeldin A-induced neurotoxicity in cultured spinal cord neurons
    Seiji Kikuchi
    Department of Neurology, Hokkaido University School of Medicine, Sapporo, Hokkaido, Japan
    J Neurosci Res 71:591-9. 2003
    ..This in vitro model may be useful in attempts to study the mechanisms of this neurodegenerative disease and to examine therapeutic potentials...
  38. ncbi request reprint Effect of geranylgeranylaceton on cellular damage induced by proteasome inhibition in cultured spinal neurons
    Seiji Kikuchi
    Department of Neurology, Hokkaido University School of Medicine, Sapporo, Japan
    J Neurosci Res 69:373-81. 2002
    ....
  39. ncbi request reprint Genetic polymorphisms of osteopontin in association with multiple sclerosis in Japanese patients
    Masaaki Niino
    Department of Neurology, Hokkaido University Graduate School of Medicine, Kita 15 Nishi 7, Kita ku, Sapporo, 060 8638, Japan
    J Neuroimmunol 136:125-9. 2003
    ..Our results suggest that the 8090th polymorphism might be associated with susceptibility to MS, while the 9583rd polymorphism might be associated with age of onset of MS...
  40. ncbi request reprint No association of vitamin D-binding protein gene polymorphisms in Japanese patients with MS
    Masaaki Niino
    Department of Neurology, Hokkaido University Graduate School of Medicine, Kita 15 Nishi 7, Kita ku, Sapporo 060 8638, Japan
    J Neuroimmunol 127:177-9. 2002
    ..Furthermore, no association was observed between the DBP polymorphisms and the age at disease onset. These results suggest that DBP does not contribute to the development of MS in Japanese...
  41. ncbi request reprint Effects of tandospirone on "5-HT1A receptor-associated symptoms" in patients with Machado-Josephe disease: an open-label study
    Asako Takei
    Hokuyukai Neurology Hospital, Nishi ku, Sapporo, Japan
    Clin Neuropharmacol 27:9-13. 2004
    ....
  42. ncbi request reprint Positional vertigo and macroscopic downbeat positioning nystagmus in spinocerebellar ataxia type 6 (SCA6)
    Ichiro Yabe
    Department of Neurology, Hokkaido University Graduate School of Medicine, N15 W7, Kita ku, Sapporo 060 8638, Japan
    J Neurol 250:440-3. 2003
    ..Our findings indicated that DPN is a distinct part of the clinical presentation of SCA6, showing that vestibular cerebellum is more affected in SCA6 than other types of degenerative ataxia...
  43. ncbi request reprint Late onset ataxia phenotype in dentatorubro-pallidoluysian atrophy (DRPLA)
    Ichiro Yabe
    Department of Neurology, Hokkaido University School of Medicine, N 15 W 7, Kita ku, Sapporo 060 8638, Japan
    J Neurol 249:432-6. 2002
    ..Our experience implies that DRPLA must be taken into account in the differential diagnosis of late onset ataxic disorders, since it can easily be overlooked...
  44. ncbi request reprint [Re-evaluation of clinical presentation in Spinocerebellar ataxia type 6]
    Ichiro Yabe
    Department of Neurology, Hokkaido University Graduate School of Medicine, North 15, West 7, Kita ku, Sapporo 060 8638, Japan
    No To Shinkei 55:299-306. 2003
  45. ncbi request reprint Spinocerebellar ataxia type 14 caused by a mutation in protein kinase C gamma
    Ichiro Yabe
    Department of Neurology, Hokkaido University Graduate School of Medicine, Sapporo, Japan
    Arch Neurol 60:1749-51. 2003
    ..Different PRKCG mutations were found in another family with SCA and in a sporadic case from the United States. Axial myoclonus was not observed in any of these US families...
  46. 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...
  47. ncbi request reprint Secretion of DJ-1 into the serum of patients with Parkinson's disease
    Chinatsu Maita
    Graduate School of Agriculture, Hokkaido University, Kita ku, Sapporo 060 8589, Japan
    Neurosci Lett 431:86-9. 2008
    ..There was no significant difference between the levels of secreted DJ-1 in two groups, and correlations of levels of secreted DJ-1 with age, clinical severity of PD and level of oxidative stress were not found...
  48. ncbi request reprint Unusual retinal phenotypes in an SCA7 family
    Hirofumi Inaba
    Department of Neurology, Hokkaido University Graduate School of Medicine, Sapporo
    Intern Med 48:1461-4. 2009
    ..He was diagnosed with SCA7 by genetic analysis. His ophthalmologic examination showed retinal degeneration without pigmented spots, which is different from those of retinal phenotypes previously described in SCA7...
  49. doi request reprint Mapping of autosomal dominant cerebellar ataxia without the pathogenic PPP2R2B mutation to the locus for spinocerebellar ataxia 12
    Kazunori Sato
    Department of Neurology, Graduate School of Medicine, Hokkaido University, Sapporo 060 8638, Japan
    Arch Neurol 67:1257-62. 2010
    ..To map the disease locus and to identify a gene mutation in a Japanese family with autosomal dominant cerebellar ataxia...
  50. ncbi request reprint Spectrum and prevalence of autosomal dominant spinocerebellar ataxia in Hokkaido, the northern island of Japan: a study of 113 Japanese families
    Rehana Basri
    Department of Neurology, Graduate School of Medicine, Hokkaido University, N15W7 Kita ku, Sapporo 060 8368, Japan
    J Hum Genet 52:848-55. 2007
    ..The present study validates the prevalence of genetically distinct ADCA subtypes based on ethnic origin and geographical variation, and shows that 16q-linked ADCA has strong hereditary effects in patients with ADCAs in Japan...
  51. doi request reprint Associations between multiple system atrophy and polymorphisms of SLC1A4, SQSTM1, and EIF4EBP1 genes
    Hiroyuki Soma
    Department of Neurology, Hokkaido University Graduate School of Medicine, Sapporo, Hokkaido, Japan
    Mov Disord 23:1161-7. 2008
    ..This study revealed genetic associations of SLC1A4, SQSTM1, and EIF4EBP1 with MSA. These results may lend genetic support to the hypothesis that oxidative stress is associated with the pathogenesis of MSA...
  52. ncbi request reprint X-linked Charcot-Marie-Tooth disease (CMTX) in a severely affected female patient with scattered lesions in cerebral white matter
    Rehana Basri
    Department of Neurology, Hokkaido University Graduate School of Medicine, Sapporo
    Intern Med 46:1023-7. 2007
    ..The existence of a female patient with severe clinical symptoms may show that gain of function mechanism also leads to the disorders seen in these patients...
  53. ncbi request reprint [Progressive cerebellar ataxia with euthyroid Hashimoto's disease--implication of autoantibodies associated with Hashimoto's disease in progressive cerebellar ataxia]
    Ichiro Yabe
    Department of Neurology, Hokkaido University Graduate School of Medicine
    Rinsho Shinkeigaku 48:640-5. 2008
    ..Although Hashimoto's disease may associate with cerebellar ataxia because cortical cerebellar atrophy is a heterogeneous condition, this association is not clear at present...
  54. ncbi request reprint [Reliability of the Japanese version of the Scale for the Assessment and Rating of Ataxia (SARA)]
    Kazunori Sato
    Neurology, Hokkaido University Graduate School of Medicine, Japan
    Brain Nerve 61:591-5. 2009
    ..After obtaining the permission, original SARA was translated into Japanese...
  55. ncbi request reprint Heredity in multiple system atrophy
    Hiroyuki Soma
    Department of Neurology, Hokkaido University, Graduate School of Medicine, and Hokuyukai Neurology Hospital, Sapporo, Hokkaido, 060 8368, Japan
    J Neurol Sci 240:107-10. 2006
    ..The results indicated that one of them had a family history of MSA. Although the familial presence of neurodegenerative disorders is rare in MSA patients, the existence of such cases suggests that MSA may have a genetic background...
  56. doi request reprint Decreased IL-10 production mediated by Toll-like receptor 9 in B cells in multiple sclerosis
    Makoto Hirotani
    Department of Neurology, Hokkaido University Graduate School of Medicine, Sapporo, Japan
    J Neuroimmunol 221:95-100. 2010
    ..Our results indicate that TLR9-mediated IL-10 production by B cells was significantly decreased in MS, and this decrease is likely due to decreased TLR9 expression in memory B cells, suggesting a role of TLR9 in immunoregulation in MS...
  57. ncbi request reprint Brain 3D-SSP SPECT analysis in dementia with Lewy bodies, Parkinson's disease with and without dementia, and Alzheimer's disease
    Yasunori Mito
    Department of Neurology, Asahikawa Red Cross Hospital, 1 1, Akebono, Asahikawa, Hokkaido 070 8530, Japan
    Clin Neurol Neurosurg 107:396-403. 2005
    ....
  58. ncbi request reprint Absence seizures with myoclonic seizures as an early manifestation of dentato-rubro-pallido-luysian atrophy (DRPLA): a follow-up clinical course of twelve years
    Kazumasa Sudo
    Department of Neurology, Sapporo City Hospital, Sapporo, Japan
    Acta Neurol Belg 110:84-8. 2010
    ..We would like to alert clinicians to consider DRPLA when diagnosing patients with absence and/or myoclonic seizures, even when they present the clinical features of benign epilepsies in the early stage...
  59. ncbi request reprint Brain SPECT analysis by 3D-SSP and phenotype of Parkinson's disease
    Yasunori Mito
    Department of Neurology, Asahikawa Red Cross Hospital, 1 1, Akebono, Asahikawa, Hokkaido, 070 8530, Japan
    J Neurol Sci 241:67-72. 2006
    ..We therefore investigated the association of phenotypes in untreated PD with brain perfusion on SPECT using three-dimensional stereotactic surface projection (3D-SSP) technique...
  60. doi request reprint Clinical characterization and successful treatment of 6 patients with Churg-Strauss syndrome-associated neuropathy
    Masakazu Nakamura
    Department of Neurology, Hokkaido University Graduate School of Medicine, N15W7, Kita ku, Sapporo 060 8638, Japan
    Clin Neurol Neurosurg 111:683-7. 2009
    ..To confirm the reported findings and clarify unknown clinical features of Churg-Strauss syndrome (CSS)-associated neuropathy and design appropriate treatment...
  61. ncbi request reprint Cystatin C in cerebrospinal fluid as a biomarker of ALS
    Sachiko Tsuji-Akimoto
    Department of Neurology, Graduate School of Medicine, Hokkaido University, Sapporo City, Hokkaido, Japan
    Neurosci Lett 452:52-5. 2009
    ..control subjects: p = 0.014 and ALS patients vs. polyneuropathy patients: p = 0.024). Cystatin C may be a useful biomarker of ALS and can be used to distinguish between ALS and polyneuropathy...
  62. ncbi request reprint Brain activation during detrusor overactivity in patients with Parkinson's disease: a positron emission tomography study
    Takeya Kitta
    Department of Urology, Nuclear Medicine and Neurology, Hokkaido University Graduate School of Medicine, Sapporo, Japan
    J Urol 175:994-8. 2006
    ..We hypothesized that brain activation patterns in response to bladder filling would be different in patients with Parkinson's disease...
  63. ncbi request reprint Usefulness of the Scale for Assessment and Rating of Ataxia (SARA)
    Ichiro Yabe
    Department of Neurology, Hokkaido Graduate School of Medicine, N15 W7 Kita ku, Sapporo 060 8638, Japan
    J Neurol Sci 266:164-6. 2008
    ....
  64. ncbi request reprint [Case of toxoplasma encephalopathy with specific MRI findings, diagnosed by IgG avidity index and nested PCR]
    Kazuhiro Horiuchi
    Department of Neurology, Hokkaido University Graduate School of Medicine
    Rinsho Shinkeigaku 50:252-6. 2010
    ..gondii infection. The T. gondii gene product was also detected in cerebrospinal fluid by nested PCR. We consider that IgG avidity index and nested PCR were useful for the diagnosis of toxoplasma encephalopathy...
  65. ncbi request reprint Four mutations of the spastin gene in Japanese families with spastic paraplegia
    Rehana Basri
    Department of Neurology, Graduate School of Medicine, Hokkaido University, Kita ku, Sapporo 060 8368, Japan
    J Hum Genet 51:711-5. 2006
    ..Previous reports and our results suggest that the frequency of SPAST mutations is higher among Japanese patients with autosomal dominant HSP, although SPAST mutations are also observed in patients with sporadic spastic paraplegia...
  66. doi request reprint Transient subacute cerebellar ataxia in a patient with Lambert-Eaton myasthenic syndrome after intracranial aneurysm surgery
    Masakazu Nakamura
    Department of Neurology, Hokkaido University Graduate School of Medicine, Sapporo 060 8368, Japan
    Clin Neurol Neurosurg 110:480-3. 2008
    ..More cases are needed to investigate the mechanisms involved. The subacute CA and LEMS in this patient have remained comparatively silent after the withdrawal of steroids, and we are continuing to observe her condition...
  67. ncbi request reprint [Spastic paraplegia caused by a novel mutation in the spastin gene (1207C-->G, P361R)--clinical features of a patient without family history]
    Yuka Machino
    Department of Neurology, Mie University, Graduate School of Medicine
    Brain Nerve 60:187-9. 2008
    ..The clinical features of this patient were consistent with those of patient with the pure form of SPG4. Gene analysis should be considered for patients with spastic paraplegia even in the absence of any family history...
  68. ncbi request reprint CTLA-4 gene polymorphism is not associated with conventional multiple sclerosis in Japanese
    Toshiyuki Fukazawa
    Hokuyukai Neurology Hospital, Niju Yon Ken 2 2 4 30, Nishi ku, Sapporo 063 0802, Japan
    J Neuroimmunol 159:225-9. 2005
    ....
  69. doi request reprint Baló's concentric sclerosislike lesion in the brainstem of a multiple sclerosis patient
    Richiro Kishimoto
    J Neurol 255:760-1. 2008
  70. ncbi request reprint [Susceptibility genes for multiple sclerosis]
    Toshiyuki Fukazawa
    Hokuyukai Neurology Hospital
    Nihon Rinsho 61:1311-6. 2003
    ..Appropriate case ascertainment and collection as well as proper statistical method are needed to isolate the susceptibility genes for MS...
  71. ncbi request reprint Multiphasic demyelinating disorder with acute transverse myelitis in Japanese
    Toshiyuki Fukazawa
    J Neurol 250:624-6. 2003
  72. ncbi request reprint Attack-related severity: a key factor in understanding the spectrum of idiopathic inflammatory demyelinating disorders
    Toshiyuki Fukazawa
    Hokuyukai Neurology Hospital, Niju Yon Ken 2 2 4 30, Nishi ku, Sapporo 063 0802, Japan
    J Neurol Sci 225:71-8. 2004
    ..Attack-related severity may be an important factor if validated by prospective studies defining criteria and establishing relationships to disease course and treatment regimens...
  73. ncbi request reprint No association between FMR1 premutations and multiple system atrophy
    Ichiro Yabe
    J Neurol 251:1411-2. 2004
  74. ncbi request reprint Brain SPECT analysis by 3D-SSP and clinical features of Parkinson's disease
    Yasunori Mito
    Neurology, Asahikawa Red Cross Hospital, Asahikawa 070 8530, Japan
    Hokkaido Igaku Zasshi 81:15-23. 2006
    ..The clinical features of PD were compared with SPECT images of the brain obtained by three-dimensional stereotactic surface projection (3D-SSP) analysis...
  75. ncbi request reprint CSF pleocytosis and expansion of spinal lesions in Japanese multiple sclerosis with special reference to the new diagnostic criteria
    Toshiyuki Fukazawa
    Hokuyukai Neurology Hospital, Niju Yon Ken 2 2 4 30, Nishi ku, Sapporo 063 0802, Japan
    J Neurol 252:824-9. 2005
    ....