The University of Tokyo · Medicine
Professor Hiroyuki Ishiura's research lab focuses on the immunological and genetic underpinnings of neurological disorders, particularly autoimmune encephalitis and amyotrophic lateral sclerosis (ALS). The lab investigates autoantibody-mediated encephalitis, including anti-NMDA receptor encephalitis, with an emphasis on clinical phenotypes, treatment responses, and the role of underlying tumors. Additionally, the lab explores the genetic basis of neurodegenerative diseases, notably the G4C2 repeat expansion in the C9ORF72 gene, which contributes to the high prevalence of ALS in specific populations such as those from the Kii Peninsula in Japan. The lab also evaluates novel immunotherapies, such as rituximab, for central nervous system-predominant autoimmune disorders.
Figures are computed from collected data and may differ slightly.
Paraneoplastic encephalitis with antibodies against NR1/NR2 heteromers of the NMDA receptor associates frequently with ovarian teratoma and has recently been established as a distinct clinical entity.1 Most patients are young women who develop a syndrome with prodromal cold-like illness, intractable seizures, psychosis, dyskinesia, and hypoventilation.1,2 However, about 40% of patients do not have a detectable tumor,3 and the treatment of these patients remains unclear. We report a patient with
Our findings indicate that the repeat expansion partly accounts for the high prevalence of ALS in the Kii peninsula.
Rituximab monotherapy was effective in treating the patient; hence, rituximab should be considered as the initial treatment against LYG involving the CNS.
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