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Progressive amnestic dementia, hippocampal sclerosis, and mutation in C9ORF72.

Acta neuropathologica - 1 Oct 2013

Murray Melissa E, Bieniek Kevin F, Banks Greenberg M, DeJesus-Hernandez Mariely, Rutherford Nicola J, van Blitterswijk Marka, Niemantsverdriet Ellis, Ash Peter E, Gendron Tania F, Kouri Naomi, Baker Matt, Goodman Ira J, Petrucelli Leonard, Rademakers Rosa, Dickson Dennis W

Abstract excerpt

The most common cause of familial frontotemporal lobar degeneration with TAR DNA-binding protein-43 pathology (FTLD-TDP) has been found to be an expansion of a hexanucleotide repeat (GGGGCC) in a noncoding region of the gene C9ORF72. Hippocampal sclerosis (HpScl) is a common finding in FTLD-TDP. Our objective was to screen for the presence of C9ORF72 hexanucleotide repeat expansions in a pathologically confirmed...

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PMID: 23922030
DOI: 10.1007/s00401-013-1161-2
PMCID: PMC3926101

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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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