KODAI KUME

Last Updated :2026/09/12

Affiliations, Positions
Research Institute for Radiation Biology and Medicine, Associate Professor
Web Site
https://www.researchgate.net/profile/Kodai-Kume
https://researchmap.jp/kumek
https://epidem.hiroshima-u.ac.jp/
E-mail
kumekhiroshima-u.ac.jp
Self-introduction
I study in causative genes of neurodenegerative disorders including amyotrophic lateral sclerosis and spinocerebellar degeneration.

Basic Information

Major Professional Backgrounds

  • 2020/04, 2021/03, Kagawa University, Faculty of Medicine
  • 2019/04, 2020/03, Hiroshima University, Research Institute for Radiation Biology and Medicine
  • 2018/04, 2019/03, Hiroshima University, Research Institute for Radiation Biology and Medicine
  • 2014/06, 2018/03, Kagawa University, Faculty of Medicine
  • 2010/04, 2014/05, Kagawa University, Faculty of Medicine
  • 2008/04, 2010/03, Kagawa University, University Hospital, Faculty of Medicine

Educational Backgrounds

  • Kagawa University, Japan, 2012/04, 2017/06
  • Kagawa University, Japan, 2002/04, 2008/03

Academic Degrees

  • Kagawa University

Research Fields

  • Medicine,dentistry, and pharmacy;Clinical internal medicine;Neurology
  • Biological Sciences;Genome science;Medical genome science

Research Keywords

  • Long-read sequencer
  • Genetics
  • Next generation sequencer
  • Neurodegenerative disease

Affiliated Academic Societies

  • Society for Neuroscience
  • American Society of Human Genetics
  • The Japanese Society for Genome Editting
  • Japanese Society of Neurology
  • The Japanese Society of Human Genetics
  • Japanese Society for Bioinformatics
  • The Japan Neuroscience Society
  • The Japanese Society for Neurochemistry
  • THE JAPANESE SOCIETY OF NEUROPATHOLOGY
  • THE JAPANESE SOCIETY OF INTERNAL MEDICINE

Educational Activity

Course in Charge

  1. 2026, Undergraduate Education, First Semester, Human genetics
  2. 2026, Undergraduate Education, Year, Medical Neuroscience III
  3. 2026, Undergraduate Education, Intensive, Practice for medical research
  4. 2026, Graduate Education (Doctoral Program) , 1Term, Methods in Biomedical Sciences B
  5. 2026, Graduate Education (Doctoral Program) , First Semester, Advanced Seminar on Molecular Epidemiology
  6. 2026, Graduate Education (Doctoral Program) , Second Semester, Advanced Seminar on Molecular Epidemiology
  7. 2026, Graduate Education (Doctoral Program) , First Semester, Advanced Research on Molecular Epidemiology
  8. 2026, Graduate Education (Doctoral Program) , Second Semester, Advanced Research on Molecular Epidemiology
  9. 2026, Graduate Education (Master's Program) , OutOfTerm(1st), Basic Training of Genome Editing
  10. 2026, Graduate Education (Doctoral Program) , 2Term, Trends of Genome Editing in Medical Science

Research Activities

Academic Papers

  1. ★, AGG repeat expansion and aggregation of BIN1 in multiple system atrophy., Brain, 20260828
    Link to Paper Search Results by DOI
  2. Aplastic or twig-like middle cerebral artery with the RNF213 variant: illustrative cases, J Neurosurg Case Lessons., 20260525
    Link to Paper Search Results by DOI
  3. An R83W mutation in Rab3A causes autosomal-dominant cerebellar ataxia, HUMAN MOLECULAR GENETICS, 35(3), 2026
    Link to Paper Search Results by DOI
  4. ★, Whole exome sequencing in Japanese spinocerebellar ataxia identifies novel variants, JOURNAL OF HUMAN GENETICS, 71(1), 35-39, 202601
    Link to Paper Search Results by DOI
  5. Spinocerebellar ataxia type 2 followed by amyotrophic lateral sclerosis due to a pure CAG repeat expansion in ATXN2: a case report and literature review, NEUROLOGICAL SCIENCES, 46(10), 5417-5421, 202510
    Link to Paper Search Results by DOI
  6. A Family with Patients Manifesting Different Phenotypes of Neuromuscular Disease Depending on the CGG Repeat Number in LRP12, Intern Med., 202510
    Link to Paper Search Results by DOI
  7. Whole exome sequencing in Japanese spinocerebellar ataxia identifies novel variants, J Hum Genet., 202509
    Link to Paper Search Results by DOI
  8. Optineurin knock-out forms TDP-43 aggregates to regulate TDP-43 protein levels despite autophagic up-regulation and aberrant TDP-43 expression, NEUROSCIENCE RESEARCH, 216, 202507
    Link to Paper Search Results by DOI
  9. Monoallelic mutations in MMD2 cause autosomal dominant aggressive periodontitis, JOURNAL OF EXPERIMENTAL MEDICINE, 222(9), 20250715
    Link to Paper Search Results by DOI
  10. Cholesterol ensures ciliary polycystin-2 localization to prevent polycystic kidney disease, LIFE SCIENCE ALLIANCE, 8(4), 20250203
    Link to Paper Search Results by DOI
  11. ★, C9orf72 repeat expansions in Wakayama: One potential cause of amyotrophic lateral sclerosis in the Kii Peninsula, Japan, JOURNAL OF THE NEUROLOGICAL SCIENCES, 466, 20241115
    Link to Paper Search Results by DOI
  12. An autopsy case of sporadic, adult-onset amyotrophic lateral sclerosis with heterozygous p.N1935S SETX gene variant, JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY, 82(8), 734-738, 20230720
    Link to Paper Search Results by DOI
  13. 'Raisin bread sign' feature of pontine autosomal dominant microangiopathy and leukoencephalopathy, BRAIN COMMUNICATIONS, 5(6), 20231101
    Link to Paper Search Results by DOI
  14. ★, CGG repeat expansion in LRP12 in amyotrophic lateral sclerosis, The American Journal of Human Genetics, 20230706
    Link to Paper Search Results by DOI
  15. Spinocerebellar ataxia type 17-digenic TBP/STUB1 disease: neuropathologic features of an autopsied patient, ACTA NEUROPATHOLOGICA COMMUNICATIONS, 10(1), 20221207
    Link to Paper Search Results by DOI
  16. ★, Comparison of two families with and without ataxia harboring novel variants in PRKCG, JOURNAL OF HUMAN GENETICS, 67(10), 595-599, 202210
    Link to Paper Search Results by DOI
  17. Novel monoallelic variant in ERLIN2 causes spastic paraplegia converted to amyotrophic lateral sclerosis, Journal of the Neurological Sciences, 430, 119984, 20211115
    Link to Paper Search Results by DOI
  18. Premedication of hemin for eradication therapy of Helicobacter pylori in patients with porphyria., Clinical case reports, 9(2), 944-946, 202102
  19. The first Japanese case of primary familial brain calcification caused by an MYORG variant., Journal of human genetics, 65(10), 917-920, 202010
  20. Aggressive periodontitis and NOD2 variants., Journal of human genetics, 65(10), 841-846, 202010
  21. Optineurin regulates osteoblastogenesis through STAT1., Biochemical and biophysical research communications, 525(4), 889-894, 20200514
  22. Genetic screening for potassium channel mutations in Japanese autosomal dominant spinocerebellar ataxia., Journal of human genetics, 65(4), 363-369, 202004
  23. Middle-age-onset cerebellar ataxia caused by a homozygous TWNK variant: a case report., BMC medical genetics, 21(1), 68-68, 20200331
  24. Biallelic mutation of HSD17B4 induces middle age-onset spinocerebellar ataxia., Neurology. Genetics, 6(1), e396, 202002
  25. Retinitis pigmentosa prior to familial ALS caused by a homozygous cilia and flagella-associated protein 410 mutation., Journal of neurology, neurosurgery, and psychiatry, 91(2), 220-222, 202002
  26. Co-morbidity of progressive supranuclear palsy and amyotrophic lateral sclerosis: a clinical-pathological case report, BMC Neurology, 19(1), 168, 201912
  27. C-terminal mutations in SYNE1 are associated with motor neuron disease in patients with SCAR8., Journal of the neurological sciences, 402, 118-120, 20190715
  28. Three cases of non-carryover fingolimod-PML: Is the risk in Japan increased?, Neurology(R) neuroimmunology & neuroinflammation, 6(3), e559, 201905
  29. Clinical significance of assaying anti-MOG antibody in cerebrospinal fluid in MOG-antibody-associated diseases: A case report., Multiple sclerosis and related disorders, 28, 165-166, 201902
  30. Subacute Sensorimotor Neuropathy Accompanied by Anti-ganglioside GM1 Antibody in a Patient with Lung Cancer., Internal medicine (Tokyo, Japan), 57(22), 3289-3292, 201811
  31. Serum microRNA expression profiling in patients with multiple system atrophy., Molecular medicine reports, 17(1), 852-860, 201801
  32. Acute Intermittent Porphyria Presenting with Posterior Reversible Encephalopathy Syndrome, Accompanied by Prolonged Vasoconstriction., Internal medicine (Tokyo, Japan), 56(6), 713-717, 2017
  33. Dialysis-induced Subdural Hematoma in an Arachnoid Cyst Associated with Autosomal Dominant Polycystic Kidney Disease., Internal medicine (Tokyo, Japan), 55(15), 2065-7, 2016
  34. Neuromyelitis optica spectrum disorder presenting with repeated hypersomnia due to involvement of the hypothalamus and hypothalamus-amygdala linkage., Multiple sclerosis (Houndmills, Basingstoke, England), 21(7), 960-2, 201506
  35. Significance of the hot-cross bun sign on T2*-weighted MRI for the diagnosis of multiple system atrophy., Journal of neurology, 262(6), 1433-9, 201506
  36. Unilateral mydriatic tonic pupil as an early isolated symptom of neurosyphilis., Journal of the neurological sciences, 344(1-2), 219-20, 20140915
  37. Usefulness of the modified F-ratio for assessments of proximal conduction in chronic inflammatory demyelinating polyneuropathy superimposed on Charcot Marie-Tooth disease type 1A., Journal of the neurological sciences, 343(1-2), 237-9, 20140815
  38. Advantage of C-11-methionine positron emission tomography for assessing IgG4-related central nervous system lesions, JOURNAL OF NEUROLOGY, 261(3), 625-627, 201403
  39. [Successful treatment of HIV-associated chronic inflammatory demyelinating polyneuropathy by early initiation of highly active anti-retroviral therapy]., Rinsho shinkeigaku = Clinical neurology, 53(5), 362-6, 2013
  40. Transcranial magnetic stimulation with the maximum voluntary muscle contraction facilitates motor neuron excitability and muscle force., Neurology research international, 2012, 847634-847634, 2012
  41. Nitric oxide-mediated modulation of calcium/calmodulin-dependent protein kinase II., The Biochemical journal, 412(2), 223-31, 20080601
  42. p90 RSK-1 associates with and inhibits neuronal nitric oxide synthase., The Biochemical journal, 401(2), 391-8, 20070115
  43. Inhibition of neuronal nitric-oxide synthase by phosphorylation at Threonine1296 in NG108-15 neuronal cells., FEBS letters, 579(25), 5658-62, 20051024
  44. FXTAS is difficult to differentiate from neuronal intranuclear inclusion disease through skin biopsy: a case report, BMC NEUROLOGY, 21(1), 20211012
    Link to Paper Search Results by DOI
  45. Analysis of genetic risk factors in Japanese patients with Parkinson's disease., Journal of human genetics, 20210319
  46. Porencephaly causing limb size asymmetry., Acta neurologica Belgica, 20210316
  47. Premedication of hemin for eradication therapy of Helicobacter pylori in patients with porphyria., Clinical case reports, 9(2), 944-946, 202102

Invited Lecture, Oral Presentation, Poster Presentation

  1. AGG Repeat Expansion and Aggregation of BIN1 in Multiple System Atrophy, NEURO2026, 2026/07, Without Invitation, English
  2. Repeat expansions in ALS, 67th Annual Meeting of the Japanese Society of Neurology, 2026/05/20, With Invitation, English
  3. The p.T1163M variant in TTBK2 causes ciliary dysfunction, ASHG 2024 Annual Meeting, 2024/11/06, Without Invitation, English
  4. CGG repeat expansion in LRP12 in Amyotrophic lateral sclerosis, Without Invitation, English
  5. CGG repeat expansion in LRP12 in amyotrophic lateral sclerosis, 68th Annual Meeting of the Japan Society of Human Genetics/Human Genetics Asia 2023, 2023/10/12, Without Invitation, English
  6. CGG repeat expansion in LRP12 causes amyotrophic lateral sclerosis, The 64th Annual Meeting of the Japanese Neuropathology / The 66th Annual Meeting of the Japanese Neurochemistry, 2023/07/06, Without Invitation, Japanese
  7. Genetic screening of FLNA variants in progressive supranuclear palsy, 2022/12/14, Without Invitation, English
  8. The variant in FLNA identified in a patient with progressive supranuclear palsy, American Society of Human Genetics Annual Meeting 2022, 2022/10/25, Without Invitation, English
  9. C-terminal mutations in SYNE1 are associated with motor neuron disease in patients with SCAR8., NEURO2019, 2019/07/25, Without Invitation, English
  10. Middle-age-onset cerebellar ataxia caused by homozygous TWNK mutation., The 64th Annual Meeting of the Japan Society of Human Genetics, 2019/11/06, Without Invitation, English

External Funds

Acceptance Results of Competitive Funds

  1. 2022, 2023
  2. Research grant, Development of a novel therapy using DNA methylation for repeat diseases
  3. Research incentive grants in 2021
  4. Grants-in-Aid for Scientific Research Grant-in-Aid for Early-Career Scientists, 2020/04/01, 2022/03/31

Social Activities

History as Peer Reviews of Academic Papers

  1. 2023, Annals of Clinical and Translational Neurology, Others
  2. 2021, Experimental and Therapeutic Medicine, Others
  3. 2021, Molecular Medicine Reports, Others
  4. 2020, BMC Neurology, Others
  5. 2021, Brain and Development, Others