60th Annual Meeting of the Japanese Society of Neurology

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Neuroscience Frontier Symposium

[NFS-01] Frontier of repeat disease

Thu. May 23, 2019 8:00 AM - 9:30 AM Room 6 (Osaka International Convention Center 10F Conference Room 1009)

Chair:Tatsushi Toda(Department of Neurology, Graduate School of Medicine, The University of Tokyo, Japan), Osamu Onodera(Dept. Neurology, Brain Research Inst. Niigata Univ., Japan)

Among the hereditary neurodegenerative diseases in past decades, an expansion of the number of triplet repeat sequences has been identified as a causative mutation. However, very recently, an expansion of a number of Penta- and hexa-repeat related diseases have been identified in spinocerebellar ataxia, ALS, and epilepsy. In this symposium, we invited pioneers of these findings. The audience will be able to touch on the forefront of the molecular pathogenesis of new mechanism of neurological disorders.

[NFS-01-1] Molecular pathogenesis of benign adult familial myoclonic epilepsy (BAFME)

Hiroyuki Ishiura (Department of Neurology, The University of Tokyo, Japan)

Among the hereditary neurodegenerative diseases in past decades, an expansion of the number of triplet repeat sequences has been identified as a causative mutation. However, very recently, an expansion of a number of Penta- and hexa-repeat related diseases have been identified in spinocerebellar ataxia, ALS, and epilepsy. In this symposium, we invited pioneers of these findings. The audience will be able to touch on the forefront of the molecular pathogenesis of new mechanism of neurological disorders.

[NFS-01-2] Pathogenesis of SCA31

Kinya Ishikawa (The Center for Personalized Medicine for Healthy Aging, Tokyo Medical and Dental University, Japan)

Among the hereditary neurodegenerative diseases in past decades, an expansion of the number of triplet repeat sequences has been identified as a causative mutation. However, very recently, an expansion of a number of Penta- and hexa-repeat related diseases have been identified in spinocerebellar ataxia, ALS, and epilepsy. In this symposium, we invited pioneers of these findings. The audience will be able to touch on the forefront of the molecular pathogenesis of new mechanism of neurological disorders.

[NFS-01-3] Mechanistic and Therapeutic Insights into Repeat Expansions Disorders

Leonard Petrucelli (Mayo Clinic, USA)

Among the hereditary neurodegenerative diseases in past decades, an expansion of the number of triplet repeat sequences has been identified as a causative mutation. However, very recently, an expansion of a number of Penta- and hexa-repeat related diseases have been identified in spinocerebellar ataxia, ALS, and epilepsy. In this symposium, we invited pioneers of these findings. The audience will be able to touch on the forefront of the molecular pathogenesis of new mechanism of neurological disorders.