H Furuya

Summary

Affiliation: Kyushu University
Country: Japan

Publications

  1. ncbi request reprint Adult onset globoid cell leukodystrophy (Krabbe disease): analysis of galactosylceramidase cDNA from four Japanese patients
    H Furuya
    Department of Neurology, Faculty of Medicine, Kyushu University 60, Fukuoka, Japan
    Hum Genet 100:450-6. 1997
  2. ncbi request reprint A case of late-onset Segawa syndrome (autosomal dominant dopa-responsive dystonia) with a novel mutation of the GTP-cyclohydrase I (GCH1) gene
    Hirokazu Furuya
    Department of Neurology, Neurological Institute, Graduate School of Medical Sciences, Kyushu University, Fukuoka 812 8582, Japan
    Clin Neurol Neurosurg 108:784-6. 2006
  3. ncbi request reprint Some flavonoids and DHEA-S prevent the cis-effect of expanded CTG repeats in a stable PC12 cell transformant
    Hirokazu Furuya
    Department of Neurology, Neurological Institute, Graduate School of Medical Sciences, Kyushu University, Fukuoka 812 8582, Japan
    Biochem Pharmacol 69:503-16. 2005
  4. ncbi request reprint A novel mutation (L250V) in the presenilin 1 gene in a Japanese familial Alzheimer's disease with myoclonus and generalized convulsion
    Hirokazu Furuya
    Department of Neurology, Neurological Institute, Graduate School of Medical Sciences, Kyushu University, Fukuoka, 812 8582, Japan
    J Neurol Sci 209:75-7. 2003
  5. ncbi request reprint An improved method for Southern DNA and Northern RNA blotting using a Mupid-2 Mini-Gel electrophoresis unit
    Hirokazu Furuya
    Clinical Research Center, Japan
    J Biochem Biophys Methods 68:139-43. 2006
  6. ncbi request reprint Heterozygous deletion of ITPR1, but not SUMF1, in spinocerebellar ataxia type 16
    A Iwaki
    Division of Human Molecular Genetics, Research Center for Genetic Information, Medical Institute of Bioregulation, Kyushu University, Maidashi 3 1 1, Higashi ku, Fukuoka 812 8582, Japan
    J Med Genet 45:32-5. 2008
  7. ncbi request reprint Tc1/Tc2 and Th1/Th2 balance in Asian and Western types of multiple sclerosis, HTLV-I-associated myelopathy/tropical spastic paraparesis and hyperIgEaemic myelitis
    H Ochi
    Department of Neurology, Neurological Institute, Graduate School of Medical Sciences, Kyushu University, 812-8582, Fukuoka, Japan
    J Neuroimmunol 119:297-305. 2001
  8. pmc Molecular analysis of a variant type of familial amyloidotic polyneuropathy showing cerebellar ataxia and pyramidal tract signs
    H Furuya
    Research Laboratory for Genetic Information, Kyushu University, Fukuoka, Japan
    J Clin Invest 80:1706-11. 1987
  9. ncbi request reprint The contactin 4 gene locus at 3p26 is a candidate gene of SCA16
    S Miura
    Division of Respirology and Neurology, Department of Medicine, Kurume University School of Medicine, Kurume City, Fukuoka, Japan
    Neurology 67:1236-41. 2006
  10. ncbi request reprint High-dose vitamin C therapy for inclusion body myositis
    T Yamada
    Department of Neurology, Neurological Institute, Graduate School of Medical Sciences, Kyushu University, Fukuoka 812 8582, Japan
    Fukuoka Igaku Zasshi 92:99-104. 2001

Collaborators

Detail Information

Publications44

  1. ncbi request reprint Adult onset globoid cell leukodystrophy (Krabbe disease): analysis of galactosylceramidase cDNA from four Japanese patients
    H Furuya
    Department of Neurology, Faculty of Medicine, Kyushu University 60, Fukuoka, Japan
    Hum Genet 100:450-6. 1997
    ..This difference in mutation sites may affect the clinical features of GLD...
  2. ncbi request reprint A case of late-onset Segawa syndrome (autosomal dominant dopa-responsive dystonia) with a novel mutation of the GTP-cyclohydrase I (GCH1) gene
    Hirokazu Furuya
    Department of Neurology, Neurological Institute, Graduate School of Medical Sciences, Kyushu University, Fukuoka 812 8582, Japan
    Clin Neurol Neurosurg 108:784-6. 2006
    ..0+/-9.2 pmol/ml) in patients with HPD/DRD). The relatively conserved GCH1 activity that is expressed in stimulated peripheral blood mononuclear cells may be related to the late clinical symptoms in this patient...
  3. ncbi request reprint Some flavonoids and DHEA-S prevent the cis-effect of expanded CTG repeats in a stable PC12 cell transformant
    Hirokazu Furuya
    Department of Neurology, Neurological Institute, Graduate School of Medical Sciences, Kyushu University, Fukuoka 812 8582, Japan
    Biochem Pharmacol 69:503-16. 2005
    ..This system makes it easy to evaluate the toxic effects of expanded CTG repeats and therefore should be useful for screening other DM1 treatments for their efficacies...
  4. ncbi request reprint A novel mutation (L250V) in the presenilin 1 gene in a Japanese familial Alzheimer's disease with myoclonus and generalized convulsion
    Hirokazu Furuya
    Department of Neurology, Neurological Institute, Graduate School of Medical Sciences, Kyushu University, Fukuoka, 812 8582, Japan
    J Neurol Sci 209:75-7. 2003
    ..This mutation was found in both patients, but not in a normal family member or normal Japanese control subjects. Thus, L250V is a novel PS1 gene mutation responsible for familial AD (FAD) in Japan...
  5. ncbi request reprint An improved method for Southern DNA and Northern RNA blotting using a Mupid-2 Mini-Gel electrophoresis unit
    Hirokazu Furuya
    Clinical Research Center, Japan
    J Biochem Biophys Methods 68:139-43. 2006
    ....
  6. ncbi request reprint Heterozygous deletion of ITPR1, but not SUMF1, in spinocerebellar ataxia type 16
    A Iwaki
    Division of Human Molecular Genetics, Research Center for Genetic Information, Medical Institute of Bioregulation, Kyushu University, Maidashi 3 1 1, Higashi ku, Fukuoka 812 8582, Japan
    J Med Genet 45:32-5. 2008
    ..Our data provide evidence that haploinsufficiency of ITPR1 alone causes SCA16 and SCA15...
  7. ncbi request reprint Tc1/Tc2 and Th1/Th2 balance in Asian and Western types of multiple sclerosis, HTLV-I-associated myelopathy/tropical spastic paraparesis and hyperIgEaemic myelitis
    H Ochi
    Department of Neurology, Neurological Institute, Graduate School of Medical Sciences, Kyushu University, 812-8582, Fukuoka, Japan
    J Neuroimmunol 119:297-305. 2001
    ..Furthermore, our results suggest that CD8+ T cells play an adjunctive role in disease induction and the clinical course of MS...
  8. pmc Molecular analysis of a variant type of familial amyloidotic polyneuropathy showing cerebellar ataxia and pyramidal tract signs
    H Furuya
    Research Laboratory for Genetic Information, Kyushu University, Fukuoka, Japan
    J Clin Invest 80:1706-11. 1987
    ..These observations lead to the consideration that a genetic factor(s) involved in the dysfunction of the central nervous system may locate in a chromosome region in close proximity to the TTR gene...
  9. ncbi request reprint The contactin 4 gene locus at 3p26 is a candidate gene of SCA16
    S Miura
    Division of Respirology and Neurology, Department of Medicine, Kurume University School of Medicine, Kurume City, Fukuoka, Japan
    Neurology 67:1236-41. 2006
    ..To identify of the gene responsible for the onset of spinocerebellar ataxia type 16 (SCA16)...
  10. ncbi request reprint High-dose vitamin C therapy for inclusion body myositis
    T Yamada
    Department of Neurology, Neurological Institute, Graduate School of Medical Sciences, Kyushu University, Fukuoka 812 8582, Japan
    Fukuoka Igaku Zasshi 92:99-104. 2001
    ..The efficiency of high-dose vitamin C therapy for inclusion body myositis (IBM) was assessed...
  11. ncbi request reprint [A case of Gerstmann-Sträussler-Scheinker syndrome (GSS) with late onset--a haplotype analysis of Glu219Lys polymorphism in PrP gene]
    K Takase
    Department of Neurology, Graduate School of Medical Sciences, Kyushu University
    Rinsho Shinkeigaku 41:318-21. 2001
    ..Therefore, the 219Lys polymorphism theoretically inhibited formation of PrPSc and may thus have delayed the onset of the disease in this patient...
  12. ncbi request reprint [An autopsy case of dementia with motor neuron disease accompanying Alzheimer's disease lesion]
    M Osoegawa
    Department of Neurology, Neurological Institute, Graduate School of Medical Sciences, Kyushu University
    Rinsho Shinkeigaku 41:482-6. 2001
    ..Overlapping of pathologically-proven D-MND and Alzheimer's disease lesion is extremely rare, and this case may improve our understanding of the process of neurodegeneration...
  13. ncbi request reprint Adult-onset hereditary sensory and autonomic neuropathy accompanied by anosmia but without skin ulceration
    N Sakae
    Department of Neurology, Neurological Institute, Graduate School of Medical Sciences, Kyushu University, Fukuoka 812 8582, Japan
    Acta Neurol Scand 104:316-9. 2001
    ..Both superficial and deep sensation were impaired in the most distal parts of all 4 limbs. Orthostatic hypotension was present in all patients. This is a unique subtype of HSAN distinct from the HSAN I-V described by Dyck...
  14. ncbi request reprint Th2 shift in mononeuritis multiplex and increase of Th2 cells in chronic inflammatory demyelinating polyneuropathy: an intracellular cytokine analysis
    I Horiuchi
    Department of Neurology, Neurological Institute, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan
    J Neurol Sci 193:49-52. 2001
    ..Thus, our results suggest that a Th2 shift is a characteristic of MNM and may play an important role in the development of the disease...
  15. ncbi request reprint [A patient with probable dementia with Lewy bodies, who showed improvement of dementia and parkinsonism by the administratim of donepezil]
    H Arahata
    Department of Neurology, Neurological Institute, Graduate School of Medical Sciences, Kyushu University
    Rinsho Shinkeigaku 41:402-6. 2001
    ..A therapeutic efficacy of donepezil for DLB has recently been reported. It is notable that donepezil was beneficial not only for cognitive dysfunction but also for parkinsonism in the present case with probable DLB...
  16. ncbi request reprint [A case of myelitis caused by visceral larva migrans due to Ascaris suum presenting only with Lhermitte's sign]
    M Kawajiri
    Department of Neurology, Neurological Institute, Graduate School of Medical Sciences, Kyushu University
    Rinsho Shinkeigaku 41:310-3. 2001
    ..Larva migrans of Ascaris suum involving the central nervous system is considered to be extremely rare, but such cases showing mild neurologic impairment without systemic symptoms may have been overlooked...
  17. ncbi request reprint [A variant form of septo-optic-pituitary dysplasia (SOPD) complicated with acute optic neuritis]
    H Nakagaki
    Department of Neurology, Neurological Institute, Graduate School of Medical Sciences, Kyushu University
    Rinsho Shinkeigaku 41:198-201. 2001
    ..P100 of the left eye showed a reduction in latency four months after discharge. This case was considered to be a variant form of SOPD complicated by acute optic neuritis...
  18. ncbi request reprint [An adult case of primary antiphospholipid syndrome presenting recurrent anterior spinal artery syndrome]
    K Takase
    Department of Neurology, Neurological Institute, Graduate School of Medical Sciences, Kyushu University
    Rinsho Shinkeigaku 41:136-9. 2001
    ..Recurrence of the spinal cord infarction in this case may have been facilitated by the presence of risk factors for arteriosclerosis...
  19. ncbi request reprint [A patient with restless legs syndrome/periodic limb movement successfully treated by wearing a lumbar corset]
    T Ishizu
    Department of Neurology, Neurological Institute, Graduate School of Medical Sciences, Kyushu University
    Rinsho Shinkeigaku 41:438-41. 2001
    ..A lumbar corset may be a useful alternative choice for patients with RLS/PLM, who cannot tolerate either anti-epileptic or dopaminergic drugs...
  20. ncbi request reprint Complementary DNA for the mouse homolog of the human amyloid beta protein precursor
    T Yamada
    Research Laboratory for Genetic Information, Faculty of Medicine, Kyushu University, Fukuoka, Japan
    Biochem Biophys Res Commun 149:665-71. 1987
    ..The mRNA was abundant in brain and kidney, and also detected in other tissues at low level. These results indicated that this protein is highly conserved through mammalian evolution and may be involved in a basic biological process(es)...
  21. ncbi request reprint Sporadic amyotrophic lateral sclerosis showing abnormal somatosensory evoked potentials: a report of three cases
    K Ogata
    Department of Neurology, Neurological Institute, Graduate School of Medical Sciences, Kyushu University, Fukuoka 812 8582, Japan
    Fukuoka Igaku Zasshi 92:242-50. 2001
    ..We therefore performed a clinico-electrophysiological analysis of sporadic ALS patients...
  22. ncbi request reprint History of allergic disorders in common neurologic diseases in Japanese patients
    J Kira
    Department of Neurology, Neurological Institute, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan
    Acta Neurol Scand 105:215-20. 2002
    ..To clarify the association between past and present history of allergic disorders and neurologic diseases...
  23. ncbi request reprint A novel autosomal dominant spinocerebellar ataxia (SCA16) linked to chromosome 8q22.1-24.1
    Y Miyoshi
    Department of Neurology, Neurological Institute, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan
    Neurology 57:96-100. 2001
    ..To characterize a distinct form of autosomal dominant cerebellar ataxia (ADCA) clinically and genetically...
  24. ncbi request reprint Genomic organization of the human amyloid beta-protein precursor gene
    S Yoshikai
    Research Laboratory for Genetic Information, Faculty of Medicine, Kyushu University, Fukuoka, Japan
    Gene 87:257-63. 1990
    ..Northern blotting showed that the transcription of the BPP gene was apparently induced by 12-O-tetradecanoylphorbol-13-acetate (phorbol derivative) in HeLa cells...
  25. ncbi request reprint [A patient with neuroborreliosis presenting gadolinium-enhanced MRI lesions in bilateral facial nerves]
    H Tokunaga
    Department of Neurology, Neurological Institute, Graduate School of Medical Sciences, Kyushu University
    Rinsho Shinkeigaku 41:632-4. 2001
    ..Although facial nerve paralysis is a major symptom of neuroborreliosis, the present report is the first to detect the inflammatory lesions of the facial nerves in the facial nerve canal portion by MRI...
  26. ncbi request reprint Human transthyretin (prealbumin) gene and molecular genetics of familial amyloidotic polyneuropathy
    Y Sakaki
    Research Laboratory for Genetic Information, Kyushu University, Fukuoka, Japan
    Mol Biol Med 6:161-8. 1989
    ..abstract truncated at 250 words)..
  27. ncbi request reprint Inclusion body myositis associated with hepatitis C virus infection
    Y Tsuruta
    Department of Neurology, Neurological Institute, Graduate School of Medical Sciences, Kyushu University, 3-1-1 Maidashi, Higashi-ku, Fukuoka 812-8582, Japan
    Fukuoka Igaku Zasshi 92:370-6. 2001
    ..Immunoreactivity for an anti-HCV antibody was not apparent in the muscle specimen from an IBM patient without HCV infection. Our findings suggest that HCV infection is related to the pathogenesis in some cases of IBM...
  28. ncbi request reprint Constitutive tyrosine phosphorylation of the vav proto-oncogene product in MRL/Mp-lpr/lpr mice
    T Mimura
    Third Department of Internal Medicine, Faculty of Medicine, University of Tokyo, Japan
    J Immunol 158:2977-83. 1997
    ....
  29. ncbi request reprint Myelitis with atopic diathesis: a nationwide survey of 79 cases in Japan
    Manabu Osoegawa
    Department of Neurology, Neurological Institute, Graduate School of Medical Sciences, Kyushu University, 812 8582, Fukuoka, Japan
    J Neurol Sci 209:5-11. 2003
    ..7%) and throughout the entire course (83.5%). Cerebrospinal fluid (CSF) abnormalities were infrequent and mild. These findings suggest that myelitis associated with atopy has mild but prolonged symptoms and occurs throughout Japan...
  30. ncbi request reprint Endoplasmic reticulum stress in myotonic dystrophy type 1 muscle
    Koji Ikezoe
    Department of Neurology, Neurological Institute, Graduate School of Medical Sciences, Kyushu University, 3 1 1, Maidashi, Higashi ku, Fukuoka, 812 8582, Japan
    Acta Neuropathol 114:527-35. 2007
    ..Taken together, ER stress is involved in muscle wasting in DM1. However, it seems to be evoked not only by disrupted intracellular Ca2+ homeostasis...
  31. ncbi request reprint Intracellular Abeta42 activates p53 promoter: a pathway to neurodegeneration in Alzheimer's disease
    Yasumasa Ohyagi
    Department of Neurology, Neurological Institute, Graduate School of Medical Sciences, Kyushu University, 3 1 1 Maidashi, Higashi ku, Fukuoka 812 8582, Japan
    FASEB J 19:255-7. 2005
    ....
  32. ncbi request reprint [A family with autosomal dominant temporal lobe epilepsy accompanied by motor and sensory neuropathy]
    Takeshi Matsuoka
    Department of Neurology, Graduate School of Medical Sciences, Kyushu University
    Rinsho Shinkeigaku 44:43-9. 2004
    ..Based on these data, we consider that this family to be a new phenotype of autosomal dominant TLE accompanied by motor and sensory neuropathy...
  33. ncbi request reprint Dysferlin expression in tubular aggregates: their possible relationship to endoplasmic reticulum stress
    Koji Ikezoe
    Department of Neurology, Neurological Institute, Graduate School of Medical Sciences, Kyushu University 60, 812 8582, Fukuoka, Japan
    Acta Neuropathol 105:603-9. 2003
    ..Strong expression of dysferlin in TAs suggests the possibility that it is located not only at the sarcolemma but also in the SR, at least in the pathological conditions...
  34. ncbi request reprint [A case of cerebellar ataxia showing severe dystonia masquerading as myoclonic jerky movements on arm extension]
    Hideaki Nakagaki
    Department of Neurology, Graduate School of Medical Sciences, Kyushu University
    Rinsho Shinkeigaku 42:7-12. 2002
    ..This is the first case to be reported of sporadic, chronic, progressive cerebellar ataxia accompanied by severe dystonic movement, especially on stretching the forearms, that mimics myoclonic movement...
  35. ncbi request reprint [Clinical and molecular genetical features of myotonic dystrophy]
    Hirokazu Furuya
    Department of Neurology, Neurological Institute, Graduate School of Medical Sciences, Kyushu University, Fukuoka 812 8582, Japan
    Fukuoka Igaku Zasshi 93:153-60. 2002
  36. ncbi request reprint Adrenoleukodystrophy: subcellular localization and degradation of adrenoleukodystrophy protein (ALDP/ABCD1) with naturally occurring missense mutations
    Norimasa Takahashi
    Department of Biological Chemistry, Graduate School of Medicine and Pharmaceutical Sciences, University of Toyama, Toyama, Japan
    J Neurochem 101:1632-43. 2007
    ..Further, the region between transmembrane domain 2 and 3 is important for the targeting of ALDP to the peroxisome...
  37. ncbi request reprint Involvement of cathepsin B in the motor neuron degeneration of amyotrophic lateral sclerosis
    Hitoshi Kikuchi
    Department of Neurology, Neurological Institute, Graduate School of Medical Sciences, Kyushu University, 812 8582 Fukuoka, Japan
    Acta Neuropathol 105:462-8. 2003
    ..Western blot analysis showed that the 25-kDa activated form of cathepsin B was down-regulated in ALS. Our results suggest that cathepsin B is involved in the motor neuron degeneration in ALS...
  38. ncbi request reprint Paradoxical lateralization of parasagittal spikes revealed by back averaging of EEG and MEG in a case with epilepsia partialis continua
    Ayame Oishi
    Department of Neurology, Graduate School of Medical Sciences, Kyushu University, Fukuoka 812 8582, Japan
    J Neurol Sci 193:151-5. 2002
    ..JLA of MEG is considered to be a useful non-invasive method for localizing the epileptogenic area in EPC even when paradoxical lateralization of electroencephalographic discharges was noted...
  39. ncbi request reprint Natural history of X-linked adrenoleukodystrophy in Japan
    Yasuyuki Suzuki
    Medical Education Development Center, Gifu University School of Medicine, Yanagido 1 1, Gifu 501 1194, Japan
    Brain Dev 27:353-7. 2005
    ..These finding will improve the understanding of the natural history of X-linked ALD and will provide a basis for the evaluation of specific treatment for X-linked ALD...
  40. ncbi request reprint [A case of primary progressive multiple sclerosis with onset of memory impairment]
    Ken ichiro Yamashita
    Department of Neurology, Neurological Institute, Graduate School of Medical Sciences, Kyushu University
    Rinsho Shinkeigaku 45:351-6. 2005
    ..Further neuropsychological and functional imaging studies will be necessary to achieve a better understanding of the mechanisms of cognitive impairment in PPMS...
  41. ncbi request reprint [A patient with focal dystonia induced by golf and presenting a decrease in activity of cerebral motor cortex on task]
    Masahito Tanaka
    Department of Neurology, Neurological Institute, Graduate School of Medical Sciences, Kyushu University
    Rinsho Shinkeigaku 45:304-7. 2005
    ..Therefore, dystonia of the present case appears to be similar to focal dystonia clinically but may partly have a mechanism similar to idiopathic generalized dystonia as shown in the fMRI studies...
  42. ncbi request reprint Therapeutic effects of normal cells on ABCD1 deficient cells in vitro and hematopoietic cell transplantation in the X-ALD mouse model
    Takeshi Yamada
    Department of Neurology, Neurological Institute, Graduate School of Medical Sciences, Kyushu University, Fukuoka 812 8582, Japan
    J Neurol Sci 218:91-7. 2004
    ..The correction requires direct cell-to-cell contact for recovering normal cell function...
  43. ncbi request reprint Baicalein 5,6,7-trimethyl ether, a flavonoid derivative, stimulates fatty acid beta-oxidation in skin fibroblasts of X-linked adrenoleukodystrophy
    Masashi Morita
    Department of Biological Chemistry, Faculty of Pharmaceutical Science, Toyama Medical and Pharmaceutical University, 2630 Sugitani, Toyama 930 0194, Japan
    FEBS Lett 579:409-14. 2005
    ..These results make baicalein-tri-Me a candidate for the therapeutic compound for X-ALD...
  44. doi request reprint A unique case of fibrodysplasia ossificans progressiva with an ACVR1 mutation, G356D, other than the common mutation (R206H)
    Hirokazu Furuya
    Department of Neurology, Neuro Muscular Center, National Omuta Hospital, Fukuoka, Japan
    Am J Med Genet A 146:459-63. 2008
    ..5-Mb region spanning ACVR1 and its neighbor genes suggested that 1067G > A is a de novo mutation. These results give a clue to better understanding of FOP as well as of the mild clinical symptoms in the patient...