66th Annual Meeting of the Japanese Society of Neurology
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Neuroscience Frontier Symposium

[NFS-01]Neuroscience Frontier Symposium 01　Discovery of new repeat expansions unveils the diverse pathogenesis of spinocerebellar ataxias

Wed. May 21, 2025 1:20 PM - 3:20 PM JST
Wed. May 21, 2025 4:20 AM - 6:20 AM UTC
第05会場(大阪国際会議場10F 会議室1009)
Chairs: Andreas Puschmann（Neurology, Lund University, Sweden）, Yoshitaka Nagai（Department of Neurology, Kindai University Faculty of Medicine, Japan）
Recent progress in the whole genome sequencing technology leads to discovery of various repeat expansion mutations either in protein-coding and non-coding regions in spinocerebellar ataxias. These repeat expansions could trigger either loss of function or gain of function at RNA and protein levels. Especially, discovery of repeat-associated non-AUG (RAN) translation tremendously expands our understanding of the pathomechanisms, implying their convergence between coding and non-coding repeat expansion disorders. In this symposium, distinguished scientists will present their cutting-edge researches, and we will discuss the diverse pathogenesis unveiled by new repeat expansions in spinocerebellar ataxias.

[NFS-01-1]GGC repeat expansions in ZFHX3 cause SCA4

Andreas Puschmann1,2 (1.Dept. of Neurology, Lund University, Sweden, 2.Dept. of Neurology, Skåne University Hospital, Sweden)
Andreas Puschmann is senior consultant neurologist at Skåne University Hospital and professor of neurology at Lund University, Sweden. He works with movement disorders and within national Swedish center units for neuromuscular and neurometabolic diseases. His research focuses on genetic causes of movement disorders and he leads the Clinical neurogenetics research group at Lund University (https://portal.research.lu.se/en/organisations/clinical-neurogenetics).

CV outline:
1996-2003 Medical studies and dissertation (Heidelberg and Munich, Germany)
2004-2009 Resident in neurology (Skåne University Hospital, Lund, Sweden)
2009- Consultant neurologist (Skåne University Hospital, Lund, Sweden)
2009-2010 Visiting researcher at Mayo Clinic Florida, USA (with Prof. Zbigniew K. Wszolek)
2011 PhD thesis entitled “Heredity in Parkinson disease” (Lund University)
2014 Associate professor in neurology (Lund University)
2024 Professor in neurology (Lund University, research and special clinical duties)

Associate Editor for the journal "Parkinsonism and Related Disorders" 2018-2023
President-elect of "International Association of Parkinsonism and Related Disorders", IAPRD
98 publications in PubMed (https://www.ncbi.nlm.nih.gov/myncbi/1dMeu0zscdXQb/bibliography/public/), h-index 30.
Research support obtained from Swedish state and regional government as well as from patient organizations and private/philanthropic foundations.

[NFS-01-2]Pathogenesis of RFC1 repeat expansions disorder

Fumiaki Tanaka, Hiroshi Doi (Department of Neurology and Stroke Medicine, Yokohama City University Graduate School of Medicine, Japan)
1986: Graduated from the Nagoya University School of Medicine
1993: Medical Staff, Department of Neurology, Nagoya University School of Medicine
1999: Visiting Scientist, Neurogenetics Branch, National Institutes of Health (NIH)
2002: Medical Staff, Department of Neurology, Nagoya University School of Medicine
2003: Visiting Associate Professor, Nagoya University Graduate School of Medicine
2005: Specially Appointed Associate Professor, Nagoya University Graduate School of Medicine
2007: Associate Professor, Department of Neurology, Nagoya University Graduate School of Medicine
2012: Professor, Department of Neurology and Stroke Medicine, Yokohama City University Graduate School of Medicine

[NFS-01-3]High-Resolution Repeat Analysis of SCA27B with Nanopore Sequencing: A Step Forward in Neurogenetics

Satoko Miyatake (Department of Clinical Genetics, Yokohama City University Hospital, Japan)
Satoko Miyatake
Department of Clinical Genetics, Yokohama City University Hospital
Education
• M.D. - Faculty of Medicine, Nagasaki University, Japan (1998)
• Ph.D. in Medical Science - Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Japan (2012)
Academic Appointment
• 2012-2015: Postdoctoral Fellow, Department of Human Genetics, Graduate School of Medicine, Yokohama City University
• 2015-2017: Assistant Professor, Department of Clinical Genetics, Yokohama City University Hospital
• 2017-2022: Lecturer, Department of Clinical Genetics, Yokohama City University Hospital
• 2022-present: Associate Professor, Department of Clinical Genetics, Yokohama City University Hospital

[NFS-01-4]Molecular mechanisms of RAN translation and neurodegeneration in SCA36

Yoshitaka Nagai1,2 (1.Department of Neurology, Kindai University Faculty of Medicine, Japan, 2.Life Science Research Institute, Kindai University, Japan)
Biography
2022- Vice President, Life Science Research Institute, Kindai University
2021- Professor and Chairman, Dept of Neurology, Kindai University Faculty of Medicine
2016-2020 Professor, Dept of Neurotherapeutics, Osaka University Graduate School of Medicine
2008-2016 Section Chief, Dept of Degenerative Neurological Diseases, National Center of Neurology and Psychiatry
2007-2008 Associate Professor, Div of Clinical Genetics, Osaka University Graduate School of Medicine
2001-2007 Assistant Professor, same as the above
2000-2001 JSPS Postdoctoral fellow, Dept of Molecular Medical Science, Osaka Bioscience Institute
1997-2000 Research Associate, Div of Neurology, Duke University Medical Center, USA
1995 PhD Osaka University Graduate School of Medicine
1990 MD Osaka University Medical School

Awards
2023 The Award from Japanese Society of Neurological Therapeutics
2016 The Award from Japan Society for Dementia Research
2003 The Award for Young Investigator of Japanese Society for Neurochemistry
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