Charcot-Marie-Tooth disease type 2CC due to NEFH variants causes a progressive, non-length-dependent, motor-predominant phenotype.

doi:10.1136/jnnp-2021-327186

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Article

Charcot-Marie-Tooth disease type 2CC due to NEFH variants causes a progressive, non-length-dependent, motor-predominant phenotype.

Journal of neurology, neurosurgery, and psychiatry - 1 Jan 2022

Pipis Menelaos, Cortese Andrea, Polke James M, Poh Roy, Vandrovcova Jana, Laura Matilde, Skorupinska Mariola, Jacquier Arnaud, Juntas-Morales Raul, Latour Philippe, Petiot Philippe, Sole Guilhem, Fromes Yves, Shah Sachit, Blake Julian, Choi Byung-Ok, Chung Ki Wha, Stojkovic Tanya, Rossor Alexander M, Reilly Mary M

Abstract excerpt

OBJECTIVE: Neurofilaments are the major scaffolding proteins for the neuronal cytoskeleton, and variants in NEFH have recently been described to cause axonal Charcot-Marie-Tooth disease type 2CC (CMT2CC). METHODS: In this large observational study, we present phenotype-genotype correlations on 30 affected and 3 asymptomatic mutation carriers from eight families. RESULTS: The majority of patients presented in...

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PMID: 34518334
DOI: 10.1136/jnnp-2021-327186
PMCID: PMC8685631

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