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Article

[Abnormal expansion of C9orf72 gene in familial frontotemporal dementia].

Revista medica de Chile - 1 Jul 2017

Miranda C Marcelo, Bustamante C M Leonor, Herrera C Luisa

Abstract excerpt

Frontotemporal Dementia (FTD) and Motor Neuron Disease (MND) may share similar pathogenic mechanisms. An abnormal hexanucleotide expansion in C9orf72 gene is the most common genetic abnormality of these conditions and explains their concurrence in the same family. We report a 77-year-old female presenting with non-fluent aphasia leading to mutism and a mild Parkinsonism. A magnetic resonance imaging showed a...

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Identifiers

PMID: 29182198
DOI: 10.4067/s0034-98872017000700896

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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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