[NFS-01] Frontier of repeat disease

[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.

He obtained M.D. degree from Faculty of Medicine, The University of Tokyo in 2002. After he practiced in internal medicine and neurology, he obtained Ph.D. degree from Graduate School of Medicine, The University of Tokyo in 2011. He works at Department of Neurology, The University of Tokyo Hospital as an assistant professor from 2012. He also participates in genetic counseling. He is a fellow of the Japan Society of Internal Medicine and a board-certified member of Japanese Society of Neurology and Japanese Society of Human Genetics. His major research interest is neurogenetics particulary on hereditary spastic paraplegias, motor neuron diseases, and repeat expansion diseases such as benign adult familial myoclonic epilepsy.