Primary Progressive Apraxia of Speech Caused by TDP-43: A Case Report.
Gabriela MeadeJennifer L WhitwellGourisankar GhoshJoseph R DuffyHeather M ClarkJ Eric AhlskogMary M MachuldaKeith Anthony JosephsRene L UtianskiPublished in: Neurology. Genetics (2024)
This case report demonstrates that TDP-43 Type A inclusions in an atypical distribution can present clinically as PPAOS. The sequence variation in the progranulin gene and asymmetric temporoparietal cortex involvement were the strongest indications of the unusual neuropathophysiology prior to autopsy.