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Article

A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvement.

Brain : a journal of neurology - 1 Aug 2014

Bannwarth Sylvie, Ait-El-Mkadem Samira, Chaussenot Annabelle, Genin Emmanuelle C, Lacas-Gervais Sandra, Fragaki Konstantina, Berg-Alonso Laetitia, Kageyama Yusuke, Serre Valérie, Moore David G, Verschueren Annie, Rouzier Cécile, Le Ber Isabelle, Augé Gaëlle, Cochaud Charlotte, Lespinasse Françoise, N'Guyen Karine, de Septenville Anne, Brice Alexis, Yu-Wai-Man Patrick, Sesaki Hiromi, Pouget Jean, Paquis-Flucklinger Véronique

Abstract excerpt

Mitochondrial DNA instability disorders are responsible for a large clinical spectrum, among which amyotrophic lateral sclerosis-like symptoms and frontotemporal dementia are extremely rare. We report a large family with a late-onset phenotype including motor neuron disease, cognitive decline res...

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Source

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Identifiers

PMID: 24934289
DOI: 10.1093/brain/awu138
PMCID: PMC4107737

Genes

CHCHD10

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24934289-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvement.PMID 24934289Read ↗

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