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Primary visual cortex pathology in ALS patients with C9ORF72 expansion

Matthew D Cykowski1,2,3, Anithachristy S Arumanayagam1, Suzanne Z Powell1,3,4

  • 1Department of Pathology and Genomic Medicine, Houston Methodist Hospital, Houston, Texas, USA.

Brain Pathology (Zurich, Switzerland)
|November 27, 2023
PubMed
Summary

Dipeptide repeat pathology, specifically poly-GA and poly-GP, was observed in the primary visual cortex of patients with C9orf72-associated amyotrophic lateral sclerosis (C9ALS). This finding highlights potential visual system involvement in C9ALS.

Keywords:
ALSC9ORF72TDP‐43calcium‐binding proteindipeptide repeatvisual cortex

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