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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 Utianski
Published 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.
Keyphrases
  • case report
  • amyotrophic lateral sclerosis
  • multiple sclerosis
  • copy number
  • functional connectivity
  • genome wide
  • genome wide identification
  • amino acid
  • gene expression
  • solid state
  • transcription factor