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Article

Novel genetic and nerve imaging characterization of Charcot-Marie-Tooth disease type 4F.

Neurogenetics - 3 Mar 2026

Küpper Hanna, Stühn Lara G, Grundmann-Hauser Kathrin, Grimm Alexander Maximilian, Blankenburg Markus, Haack Tobias B, Rosewich Hendrik

Abstract excerpt

Charcot-Marie-Tooth disease type 4F (CMT4F) is a rare hereditary sensorimotor neuropathy, linked to the periaxin (PRX) gene. Early onset, pronounced sensory ataxia and comparatively moderate muscular weakness are characteristic hallmarks. We here report a child with corresponding features carrying a pathogenic PRX variant in trans with a very rare variant of uncertain significance in the 5’ untranslated region...

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Identifiers

PMID: 41774253
DOI: 10.1007/s10048-026-00891-6
PMCID: PMC12957058

Genes

PRX

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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