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Article

Tau pathology in frontotemporal lobar degeneration with C9ORF72 hexanucleotide repeat expansion.

Acta neuropathologica - 1 Feb 2013

Bieniek Kevin F, Murray Melissa E, Rutherford Nicola J, Castanedes-Casey Monica, DeJesus-Hernandez Mariely, Liesinger Amanda M, Baker Matthew C, Boylan Kevin B, Rademakers Rosa, Dickson Dennis W

Abstract excerpt

An expanded GGGGCC hexanucleotide repeat in C9ORF72 is the most common genetic cause of amyotrophic lateral sclerosis and frontotemporal lobar degeneration associated with TDP-43 pathology (FTLD-TDP). In addition to TDP-43-positive neuronal and glial inclusions, C9ORF72-linked FTLD-TDP has characteristic TDP-43-negative neuronal cytoplasmic and intranuclear inclusions as well as dystrophic neurites in the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 23053135
DOI: 10.1007/s00401-012-1048-7
PMCID: PMC3551994

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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