Atypical TDP-43 proteinopathy clinically presenting with progressive nonfluent aphasia: A case report.
frontotemporal lobar degeneration
immunoblotting
neuropathology
phosphorylated transactive response DNA binding protein of 43 kDa (p-TDP-43)
progressive nonfluent aphagia
Journal
Neuropathology : official journal of the Japanese Society of Neuropathology
ISSN: 1440-1789
Titre abrégé: Neuropathology
Pays: Australia
ID NLM: 9606526
Informations de publication
Date de publication:
17 Sep 2023
17 Sep 2023
Historique:
revised:
29
08
2023
received:
05
06
2023
accepted:
31
08
2023
medline:
18
9
2023
pubmed:
18
9
2023
entrez:
17
9
2023
Statut:
aheadofprint
Résumé
Progressive nonfluent aphasia (PNFA) is a form of frontotemporal lobar degeneration (FTLD) caused by tau and transactive response DNA-binding protein of 43 kDa (TDP-43) accumulation. Here we report the autopsy findings of a 64-year-old right-handed man with an atypical TDP-43 proteinopathy who presented with difficulties with speech, verbal paraphasia, and dysphagia that progressed over the 36 months prior to his death. He did not show pyramidal tract signs until his death. At autopsy, macroscopic brain examination revealed atrophy of the left dominant precentral, superior, and middle frontal gyri and discoloration of the putamen. Spongiform change and neuronal loss were severe on the cortical surfaces of the precentral, superior frontal, and middle frontal gyri and the temporal tip. Immunostaining with anti-phosphorylated TDP-43 revealed neuronal cytoplasmic inclusions and long and short dystrophic neurites in the frontal cortex, predominantly in layers II, V, and VI of the temporal tip, amygdala, and transentorhinal cortex. Immunoblot analysis of the sarkosyl-insoluble fractions showed hyperphosphorylated TDP-43 bands at 45 kDa and phosphorylated C-terminal fragments at approximately 25 kDa. The pathological distribution and immunoblot band pattern differ from the major TDP-43 subtype and therefore may represent a new FTLD-TDP phenotype.
Types de publication
Case Reports
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : Grant-in-Aid for Scientific Research (C)
ID : JP20K07783
Informations de copyright
© 2023 Japanese Society of Neuropathology.
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