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Article

Distinct clinical and pathological characteristics of frontotemporal dementia associated with C9ORF72 mutations.

Brain : a journal of neurology - 1 Mar 2012

Snowden Julie S, Rollinson Sara, Thompson Jennifer C, Harris Jennifer M, Stopford Cheryl L, Richardson Anna M T, Jones Matthew, Gerhard Alex, Davidson Yvonne S, Robinson Andrew, Gibbons Linda, Hu Quan, DuPlessis Daniel, Neary David, Mann David M A, Pickering-Brown Stuart M

Abstract excerpt

The identification of a hexanucleotide repeat expansion in the C9ORF72 gene as the cause of chromosome 9-linked frontotemporal dementia and motor neuron disease offers the opportunity for greater understanding of the relationship between these disorders and other clinical forms of frontotemporal lobar degeneration. In this study, we screened a cohort of 398 patients with frontotemporal dementia, progressive...

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Identifiers

PMID: 22300873
DOI: 10.1093/brain/awr355
PMCID: PMC3286329

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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