TARDBP and Alstrom syndrome: •IHC showed a large number of granular TDP-43 in prefrontal cortex and primary motor cortex.•In all cases, Hippocampal dentate granule cells and dopaminergic neurons in the substantia nigra was affected.•NCIs were seen in granular, filamentous, round and compact form in LMN.•IHC failed to show abnormality using a number of TIA-1 antibodies.•The staining patterns were similar in ALSs with and without TIA-1 mutation and with normal control group, and no aggregations were detected in cases with TIA-1 mutation.•Colocalization between TIA-1 and pTDP-43 was not detected.