[S-02] Genetic and neuropathological approach decipher the molecular mechanism of idiopathic central nervous system demyelinating diseases

[S-02-5] Glial pathology of multiple sclerosis, neuromyelitis optica specturm disorders, and Baló's disease

Katsuhisa Masaki (Department of Neurology, Graduate School of Medical Science, Kyushu University, Japan)

Genome-wide association studies (GWAS) on multiple sclerosis (MS) in Caucasians have identified various risk genes, which are mainly related to immune functions. Molecular pathways leading to inflammatory demyelination are now becoming clearer. The first Japanese GWAS, enrolling more than 1,000 MS and neuromyelitis optica spectrum disorders (NMOSD) patients, has revealed the distinct risk genes from those in Caucasians, many of which are related to neuroglial functions. Molecular-immunopathological studies have also identified critical changes of glial cells in these conditions. Therefore, the aim of this symposium is to decipher the mechanisms of the MS and NMOSD by integrating the functions of the discovered genetic risk factors and the pathologically-proven molecular changes, with special attention on the demyelinating disorders more frequently encountered in Asians, such as NMOSD and Baló’s concentric sclerosis.

Dr. Masaki graduated from Oita Medical University in 2003 and then completed the neurology residency program at Kyushu University Hospital and some affiliated hospitals. After that he received a PhD in 2012 at Kyushu University Graduate School of Medical Sciences and worked as the Assistant Professor in the Department of Neurology at Kyushu University from 2012 to 2016. He studied abroad at Department of Neurology, University of Chicago from 2016 to 2018. Now he is the Senior Lecturer in the Department of Neurology at Kyushu University. His principal research activity has been in neuroimmunology and neuropathology, especially in neuropathological study of multiple sclerosis (MS), neuromyelitis optica (NMO) and Baló ’s disease. He has received an award from PACTRIMS in 2010 and from the Japanese Society for Neuroimmunology in 2013 and 2014. Recently, he has been interested in glial cell pathology in human demyelinating diseases.