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Article

Cryptic amyloidogenic elements in mutant NEFH causing Charcot-Marie-Tooth 2 trigger aggresome formation and neuronal death.

Acta neuropathologica communications - 14 Jul 2017

Jacquier Arnaud, Delorme Cécile, Belotti Edwige, Juntas-Morales Raoul, Solé Guilhem, Dubourg Odile, Giroux Marianne, Maurage Claude-Alain, Castellani Valérie, Rebelo Adriana, Abrams Alexander, Züchner Stephan, Stojkovic Tanya, Schaeffer Laurent, Latour Philippe

Abstract excerpt

Neurofilament heavy chain (NEFH) gene was recently identified to cause autosomal dominant axonal Charcot-Marie-Tooth disease (CMT2cc). However, the clinical spectrum of this condition and the physio-pathological pathway remain to be delineated. We report 12 patients from two French families with axonal dominantly inherited form of CMT caused by two new mutations in the NEFH gene. A remarkable feature was the...

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Identifiers

PMID: 28709447
DOI: 10.1186/s40478-017-0457-1
PMCID: PMC5513089

Genes

NEFH

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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