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Article

Mixed tau, TDP-43 and p62 pathology in FTLD associated with a C9ORF72 repeat expansion and p.Ala239Thr MAPT (tau) variant.

Acta neuropathologica - 1 Feb 2013

King Andrew, Al-Sarraj Safa, Troakes Claire, Smith Bradley N, Maekawa Satomi, Iovino Mariangela, Spillantini Maria Grazia, Shaw Christopher E

Abstract excerpt

A massive intronic GGGGCC hexanucleotide repeat expansion in C9ORF72 has recently been identified as the most common cause of familial and sporadic amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD). We have previously demonstrated that C9ORF72 mutant cases have a sp...

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Source

Identifiers

PMID: 23053136
DOI: 10.1007/s00401-012-1050-0

Genes

MAPT

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23053136-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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