Professor Shoji Tsuji

Scientific Achievement in Neurology Award

Professor Shoji Tsuji 

The 2015 medal for scientific achievement in Neurology is awarded to Professor Shoji Tsuji, MD, phD of Japan.

Shoji Tsuji is Professor of Neurology and Director of Medical Genome Center in the University of Tokyo Hospital. He had served as Professor of Neurology and Director at Brain Research Institute, Niigata University, and then moved to the University of Tokyo in 2002.

For 30 years he has been a leader in Neurogenetics and has made several important scientific discoveries that have had a major impact on the field.

In early 1980’s he cloned the gene for Gaucher disease and showed that particular mutations are associated with Neuronopathic types. He found two mutations (L444P and N37OS) in the glucocerebrosidase gene. Further, he found a clear genotype – phenotype correlation of L444P with neuoropathic forms of Gaucher disease and published it in the New England J of Medicine 316:570 – 575, 1987.

His research focused on elucidation of molecular bases of hereditary neurological diseases. He discovered the gene for dentatorubral – pallidoluysian atrphy (DRPLA) and demonstrated that the broad clinical presentations of DRPLA are clearly correlated with the size of expanded CAG repeats. He further elucidated molecular mechanisms of neurodegeneration of DRPLA employing excellent cellular and animal models. He identified the gene for DRPLA and published it in Nature Genet 6:9-13, 1994.

He has recently extended his research to elucidate molecular bases of sporadic diseases including Parkinson’s Disease and multiple system atrophy (MSA). Based on the discovery rare multiplex families with MSA, he identified a causative gene, COQ2. Through an international collaborative study, he further discovered that multiple variants of COQ2 are associated with an increased risk for developing sporadic MSA. COQ2 encodes an enzyme involved in the biosynthesis of coenzyme Q10 for MSA, These findings were published in the New Englad J. of Medicine 369:233 – 244, 2013. He is currently preparing clinical trials employing coenzyme Q10.

Dr Tsuji is a great scientist who has advanced our knowledge of the molecular and genetic basis of Neurologic disease.


Roger Rosenberg, MD
University of Texas, South Western Medical centre
Dallas, Texas, USA


Citation by Prof. Roger Rosenberg, November 2015 on presenting an award for scientific achievement in neurology at the WCN2015, Chile.



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