Masaki Kamada

TL;DR: It is shown that there are mutations in the gene encoding optineurin (OPTN), earlier reported to be a causative gene of primary open-angle glaucoma (POAG), in patients with ALS and these findings strongly suggest that OPTN is involved in the pathogenesis of ALS.

TL;DR: To investigate the presence and frequency of TardBP mutations in Japanese SOD1-negative FALS patients, mutational screening of TARDBP was performed in 30 patients and it was thought that this mutation increases TDP-43 phosphorylation, which might lead to impaired nuclear cytoplasmic transport or protein-protein interaction, thereby leading to T DP-43 accumulation.

TL;DR: Clinopathological analyses of two amyotrophic lateral sclerosis patients with homozygous Q398X optineurin (OPTN) mutation suggest that the loss‐of‐function, but not the proteinopathy itself, of OPTN results in TDP‐43 deposits in neuronal and glial cytoplasm and Golgi apparatus fragmentation, leading to multisystem neurodegeneration.

TL;DR: The results indicate that OPTN mutations causing ALS are rare, especially in mainly Caucasian ALS subjects, as well as in individuals of different ethnicity.

TL;DR: The results support the notion that OPTn mutations may lead to multiple proteins aggregation and neuronal degeneration in familial ALS cases with OPTN mutations.