Hideshi Kawakami

Last Updated :2021/04/05

Affiliations, Positions
Research Institute for Radiation Biology and Medicine, Professor
E-mail
hkawakamhiroshima-u.ac.jp

Basic Information

Academic Degrees

  • Doctor of Philosophy in Medical Science, Kyoto University

Research Fields

  • Medicine,dentistry, and pharmacy;Clinical internal medicine;Neurology

Research Keywords

  • neurodegerative disease
  • SCA
  • optineurin
  • geneticfactor
  • triplet repeats
  • ALS

Educational Activity

Course in Charge

  1. 2021, Undergraduate Education, First Semester, Human genetics
  2. 2021, Undergraduate Education, Intensive, Practice for medical research
  3. 2021, Graduate Education (Master's Program) , First Semester, Seminar
  4. 2021, Graduate Education (Master's Program) , Second Semester, Seminar
  5. 2021, Graduate Education (Master's Program) , First Semester, Research
  6. 2021, Graduate Education (Master's Program) , Second Semester, Research
  7. 2021, Graduate Education (Doctoral Program) , First Semester, Advanced Seminar
  8. 2021, Graduate Education (Doctoral Program) , Second Semester, Advanced Seminar
  9. 2021, Graduate Education (Doctoral Program) , First Semester, Advanced Research
  10. 2021, Graduate Education (Doctoral Program) , Second Semester, Advanced Research
  11. 2021, Graduate Education (Doctoral Program) , First Semester, Advanced Seminar on Epidemiology
  12. 2021, Graduate Education (Doctoral Program) , Second Semester, Advanced Seminar on Epidemiology
  13. 2021, Graduate Education (Doctoral Program) , First Semester, Advanced Research on Epidemiology
  14. 2021, Graduate Education (Doctoral Program) , Second Semester, Advanced Research on Epidemiology
  15. 2021, Graduate Education (Doctoral Program) , 2Term, Trends of Genome Editing in Medical Science

Research Activities

Academic Papers

  1. Co-morbidity of progressive supranuclear palsy and amyotrophic lateral sclerosis: a clinical-pathological case report., BMC Neurology, 19(1), 168, 2019 Jul 18
  2. Treatment of intractable resting tremor of spinocerebellar ataxia 42 with zonisamide., Journal of Neurological Science, 396(1), 119-120, 2019 Jan 15
  3. Using global team science to identify genetic parkinson's disease worldwide, Annals of neurology, 86(2), 153-157, 2019, Aug,1
  4. Genetic screening for potassium channel mutations in Japanese autosomal dominant spinocerebellar ataxia, JOURNAL OF HUMAN GENETICS, 65(4), 363-369, 202004
    Link to Paper Search Results by DOI
  5. Middle-age-onset cerebellar ataxia caused by a homozygous TWNK variant: a case report, BMC MEDICAL GENETICS, 21(1), 20200331
    Link to Paper Search Results by DOI
  6. Optineurin regulates osteoblastogenesis through STAT1, BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 525(4), 889-894, 20200514
    Link to Paper Search Results by DOI
  7. Biallelic mutation of HSD17B4 induces middle age-onset spinocerebellar ataxia, NEUROLOGY-GENETICS, 6(1), 202002
    Link to Paper Search Results by DOI
  8. Amyotrophic lateral sclerosis of long clinical course clinically presenting with progressive muscular atrophy, NEUROPATHOLOGY, 39(1), 47-53, 201902
    Link to Paper Search Results by DOI
  9. Mitochondrial DNA haplogroups and age at onset of Machado-Joseph disease/spinocerebellar ataxia type 3: a study in patients from multiple populations, EUROPEAN JOURNAL OF NEUROLOGY, 26(3), 506-512, 201903
    Link to Paper Search Results by DOI
  10. Characteristics of 5015 Salivary Gland Neoplasms Registered in the Hiroshima Tumor Tissue Registry over a Period of 39 Years, JOURNAL OF CLINICAL MEDICINE, 8(5), 201905
    Link to Paper Search Results by DOI
  11. Novel compound heterozygous mutations in the PARK2 gene identified in a Chinese pedigree with early-onset Parkinson's disease, BRAIN AND BEHAVIOR, 8(1), 201801
    Link to Paper Search Results by DOI
  12. Multiple Proteinopathies in Familial ALS Cases With Optineurin Mutations, JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY, 77(2), 128-138, 201802
    Link to Paper Search Results by DOI
  13. RELATIVE BIOLOGICAL EFFECTIVENESS OF NEUTRONS DERIVED FROM THE EXCESS RELATIVE RISK MODEL WITH THE ATOMIC BOMB SURVIVORS DATA MANAGED BY HIROSHIMA UNIVERSITY, RADIATION PROTECTION DOSIMETRY, 180(1-4), 346-350, 201808
    Link to Paper Search Results by DOI
  14. Second derivative of the finger photoplethysmogram and cardiovascular mortality in middle-aged and elderly Japanese women, HYPERTENSION RESEARCH, 40(2), 207-211, 201702
    Link to Paper Search Results by DOI
  15. First report of a Japanese family with spinocerebellar ataxia type 10: The second report from Asia after a report from China, PLOS ONE, 12(5), 20170519
    Link to Paper Search Results by DOI
  16. PLK1-mediated phosphorylation of WDR62/MCPH2 ensures proper mitotic spindle orientation, HUMAN MOLECULAR GENETICS, 26(22), 4429-4440, 20171115
    Link to Paper Search Results by DOI
  17. Linear ubiquitination is involved in the pathogenesis of optineurin-associated amyotrophic lateral sclerosis, NATURE COMMUNICATIONS, 7, 201608
    Link to Paper Search Results by DOI
  18. Vulnerability of Purkinje Cells Generated from Spinocerebellar Ataxia Type 6 Patient-Derived iPSCs, CELL REPORTS, 17(6), 1482-1490, 20161101
    Link to Paper Search Results by DOI
  19. Self-Organization of Polarized Cerebellar Tissue in 3D Culture of Human Pluripotent Stem Cells, CELL REPORTS, 10(4), 537-550, 20150203
    Link to Paper Search Results by DOI
  20. A mutation in the low voltage-gated calcium channel CACNA1G alters the physiological properties of the channel, causing spinocerebellar ataxia, MOLECULAR BRAIN, 8, 20151229
    Link to Paper Search Results by DOI
  21. Neurogenetics: The expanding horizons of diagnosis and disease pathogenesis., Neurology, 84(11), 1070-1071, 20150317
    Link to Paper Search Results by DOI
  22. Multicenter Study of Intravenous Recombinant Tissue Plasminogen Activator Infusion around Hiroshima, Japan: The Hiroshima Acute Stroke Retrospective and Prospective Registry Study., J Stroke Cerebrovasc Dis., 24(12), 2747-2753, 201512
    Link to Paper Search Results by DOI
  23. Exome sequencing reveals a novel TTC19 mutation in an autosomal recessive spinocerebellar ataxia patient, BMC NEUROLOGY, 14, 20140107
    Link to Paper Search Results by DOI
  24. An autopsy case of sporadic amyotrophic lateral sclerosis associated with the I113T SOD1 mutation, NEUROPATHOLOGY, 34(1), 58-63, 201402
    Link to Paper Search Results by DOI
  25. Clinicopathologic features of autosomal recessive amyotrophic lateral sclerosis associated with optineurin mutation, NEUROPATHOLOGY, 34(1), 64-70, 201402
    Link to Paper Search Results by DOI
  26. Exome sequencing reveals a novel MRE11 mutation in a patient with progressive myoclonic ataxia, JOURNAL OF THE NEUROLOGICAL SCIENCES, 337(1-2), 219-223, 20140215
    Link to Paper Search Results by DOI
  27. Neuropathological features of Japanese familial amyotrophic lateral sclerosis with p.N352S mutation in TARDBP., Neuropathology and Applied Neurobiology, 40(2), 231-236, 20140201
  28. Exome sequencing reveals a novel ANO10 mutation in a Japanese patient with autosomal recessive spinocerebellar ataxia., Clinical Genetics, 85(3), 296-297, 20140301
  29. DYT6 in Japan - genetic screening and clinical characteristics of the patients., Movement Disorders, 29(2), 278-280, 20140201
  30. ALS12 (optineurin), 27, 496-499, 20140301
  31. An autopsy case of familial amyotrophic lateral sclerosis with FUS R521G mutation, AMYOTROPHIC LATERAL SCLEROSIS AND FRONTOTEMPORAL DEGENERATION, 15(3-4), 305-308, 201406
    Link to Paper Search Results by DOI
  32. Detecting gene mutations in Japanese Alzheimer's patients by semiconductor sequencing, NEUROBIOLOGY OF AGING, 35(7), 201407
    Link to Paper Search Results by DOI
  33. Genome-Wide Association Study in Musician's Dystonia: A Risk Variant at the Arylsulfatase G Locus?, MOVEMENT DISORDERS, 29(7), 921-927, 201406
    Link to Paper Search Results by DOI
  34. A Japanese patient with familial ALS and a p.K510M mutation in the gene for FUS (FUS) resulting in the totally locked-in state, NEUROPATHOLOGY, 34(5), 504-509, 201410
    Link to Paper Search Results by DOI
  35. Mutations in Twinkle primase-helicase cause Perrault syndrome with neurologic features, NEUROLOGY, 83(22), 2054-2061, 20141125
    Link to Paper Search Results by DOI
  36. Immunoreactivity of valosin-containing protein in sporadic amyotrophic lateral sclerosis and in a case of its novel mutant, ACTA NEUROPATHOLOGICA COMMUNICATIONS, 2, 2014
    Link to Paper Search Results by DOI
  37. Optineurin and amyotrophic lateral sclerosis, GERIATRICS & GERONTOLOGY INTERNATIONAL, 13(3), 528-532, 201307
    Link to Paper Search Results by DOI
  38. Optineurin suppression causes neuronal cell death via NF-kappa B pathway, JOURNAL OF NEUROCHEMISTRY, 126(6), 699-704, 201309
    Link to Paper Search Results by DOI
  39. Cerebellar ataxia with SYNE1 mutation accompanying motor neuron diesease., Neurology, 80(2), 600-601, 20130201
  40. Convenient diagnosis of spinal and bulbar muscular atrophy using a microchip electrophoresis system, American Journal of Neurodegenerative Disease, 2(1), 35-39, 20130301
  41. Oromandibular Dystonia associated with SCA36, Movement Disorders, 28(4), 557-559, 20130401
  42. Investigation on circular asymmetry of geographical distribution in cancer mortality of Hiroshima atomic bomb survivors based on risk maps: analysis of spatial survival data, RADIATION AND ENVIRONMENTAL BIOPHYSICS, 51(2), 133-141, 201205
    Link to Paper Search Results by DOI
  43. The clinical characteristics of spinocerebellar ataxia 36: A study of 2121 Japanese ataxia patients, MOVEMENT DISORDERS, 27(9), 1158-1163, 201208
    Link to Paper Search Results by DOI
  44. Investigation on circular asymmetry of geographical distribution of mortality risk in Hiroshima atomic bomb survivors, IPSHU English Research Report Series, 28, 57-65, 20120401
  45. Clinicopathologic study on an ALS family with a heterozygous E478G optineurin mutation, ACTA NEUROPATHOLOGICA, 122(2), 223-229, 201108
    Link to Paper Search Results by DOI
  46. Screening for OPTN mutations in amyotrophic lateral sclerosis in a mainly Caucasian population, NEUROBIOLOGY OF AGING, 32(10), 201110
    Link to Paper Search Results by DOI
  47. Optineurin with amyotrophic lateral sclerosis-related mutations abrogates inhibition of interferon regulatory factor-3 activation, NEUROSCIENCE LETTERS, 505(3), 279-281, NOV 21 2011
    Link to Paper Search Results by DOI
  48. Optineurin is co-localized with FUS in basophilic inclusions of ALS with FUS mutation and in basophilic inclusion body disease., Acta Neuropathologica, 121(4), 555-557, 20110401
  49. The UCHL1 polymorphism and parkinson's disease in a Japanese population, Parkinsonism and Related Disorders, 17, 473-475, 20110701
  50. Detection of large expansions in SCA8 using a fluorescent repeat-primed PCR assay., Hiroshima Journal of Mediacal Science, 60(3), 63-66, 20110901
  51. Severe brain atrophy after long-term survival seen in siblings with familial amyotrophic lateral sclerosis and a mutation in the optineurin gene: a case series, Journal of Medical Case Reports, 5(12), 573, 20111201
  52. The UCHL1 S18Y polymorphism and Parkinson's disease in a Japanese population, PARKINSONISM & RELATED DISORDERS, 17(6), 473-475, 201107
    Link to Paper Search Results by DOI
  53. Homozygosity Mapping on Homozygosity Haplotype Analysis to Detect Recessive Disease-Causing Genes from a Small Number of Unrelated, Outbred Patients, PLOS ONE, 6(9), 20110920
    Link to Paper Search Results by DOI
  54. Mutations of optineurin in amyotrophic lateral sclerosis, NATURE, 465(7295), 223-U109, 20100513
    Link to Paper Search Results by DOI
  55. Autopsy Case of Later-Onset Pontocerebellar Hypoplasia Type 1: Pontine Atrophy and Pyramidal Tract Involvement, JOURNAL OF CHILD NEUROLOGY, 25(11), 1429-1434, NOV 2010
    Link to Paper Search Results by DOI
  56. A quantitatively-modeled homozygosity mapping algorithm, qHomozygosityMapping, utilizing whole genome single nucleotide polymorphism genotyping data, BMC BIOINFORMATICS, 11, 20101015
    Link to Paper Search Results by DOI
  57. LRRK2 Mutations and Risk Variants in Japanese Patients with Parkinson's Disease, MOVEMENT DISORDERS, 24(7), 1034-1041, 20090515
    Link to Paper Search Results by DOI
  58. Genome-wide association study identifies common variants at four loci as genetic risk factors for Parkinson's disease., Nature Genetics, 41(12), 1303-1307, 20091201
  59. Screening for TARDBP mutations in Japanese familial amyotrophic lateral sclerosis, J Neurol Sci., 15(284), 69-71, 20090501
  60. LRRK2 mutations and risk variants in Japanese patients with Parkinson's disease., Mov Disord., 24(7), 1034-41, 20090501
  61. Aortic Pulse Wave Velocity Predicts Cardiovascular Mortality in Middle-Aged and Elderly Japanese Men, CIRCULATION JOURNAL, 73(3), 549-553, 200903
    Link to Paper Search Results by DOI
  62. Screening for TARDBP mutations in Japanese familial amyotrophic lateral sclerosis, JOURNAL OF THE NEUROLOGICAL SCIENCES, 284(1-2), 69-71, 20090915
    Link to Paper Search Results by DOI
  63. The CNTN4 c.4256C>T mutation is rare in Japanese with inherited spinocerebellar ataxia, Journal of the Neurological Sciences, 266, 180-181, 20080201
  64. Pathogenic expansions of the SCA6 locus are associated with a common CACNA1A haplotype across the globe: founder effect or predisposing chromosome?, European Journal of Human Genetics, 16(7), 841-847, 20080701
  65. Pathogenic expansions of the SCA6 locus are associated with a common CACNA1A haplotype across the globe: founder effect or predisposing chromosome?, EUROPEAN JOURNAL OF HUMAN GENETICS, 16(7), 841-847, 200807
    Link to Paper Search Results by DOI
  66. A polymorphism of LOC387715 gene is associated with age-related macular degeneration in the Japanese population., Neurosci. Lett., 414(1), 71-74, 20070201
  67. No association of complement factor H gene polymorphism and age-related macular degeneration in the Japanese population., Retina, 26(9), 985-987, 20060901
  68. Optineurin with amyotrophic lateral sclerosis-related mutations abrogates inhibition of interferon regulatory factor-3 activation, Neuroscience Letters, 505(3), 279-281, 2011