MembersProf.Akiyoshi KAKITA Assoc. Prof. Hiroshi SHIMIZU Assist. Prof. Asa NAKAHARA Specially Appointed Assist. Prof. Hideomi HAMASAKI Specially Appointed Assist. Prof. Ramil GABDULKHAEV |
MissionTo provide the highest quality pathology services and scientific evidence focused on the advancement of developments in the field of neuropathology. VisionAs an academic pathology department, we aim to deliver a high degree of professionalism in clinicopathological diagnostic services and neuropathology research, utilizing comprehensive and innovative approaches and building departmental competence to meet the needs of patients, institutions, and society. Our approach will involve taking full advantage of opportunities to advance both the science and practice of neuropathology through individual and collaborative research, which hopefully will produce leading practitioners and researchers. |
Spinocerebellar ataxia (SCA) type 17-digenic TBP/STUB1 disease (SCA17-DI) has been recently segregated from SCA17, caused by digenic inheritance of two gene mutations - intermediate polyglutamine-encoding CAG/CAA repeat expansions in TBP (TBP41 − 49) and STUB1 heterozygosity - the former being associated with SCA17, and the latter with SCA48 and SCAR16 (autosomal recessive). We have reported clinicopathologic features of an autopsied patient with SCA17-DI and demonstrated that failure of polyubiquitin chain formation is associated with the pathogenicity of the mutant STUB1.