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Article

Familial frontotemporal dementia associated with C9orf72 repeat expansion and dysplastic gangliocytoma.

Neurobiology of aging - 1 Feb 2014

Ferrari Raffaele, Kero Mia, Mok Kin, Paetau Anders, Tienari Pentti J, Tynninen Olli, Hardy John, Momeni Parastoo, Verkkoniemi-Ahola Auli, Myllykangas Liisa

Abstract excerpt

A hexanucleotide repeat expansion in the chromosome 9 open reading frame 72 gene (C9orf72) was recently identified as the most common genetic cause of frontotemporal dementia/amyotrophic lateral sclerosis. Here we describe the clinical, pathologic, and genetic features of a Finnish C9orf72 expansion carrier, who developed a dysplastic gangliocytoma (Lhermitte-Duclos disease), a rare hamartoma/overgrowth syndrome...

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PMID: 24080172
DOI: 10.1016/j.neurobiolaging.2013.08.021

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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