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Case Reports
. 2021 Jun;26(2):231-234.
doi: 10.1111/jns.12454. Epub 2021 May 19.

Proximal weakness involvement in the first Italian case of Charcot-Marie-Tooth 2CC harboring a novel frameshift variant in NEFH

Francesco Aruta  1 , Daniele Severi  1 , Aniello Iovino  1 , Emanuele Spina  1 , Melissa Barghigiani  2 , Lucia Ruggiero  1 , Rosa Iodice  1 , Filippo Maria Santorelli  2 , Fiore Manganelli  1 , Stefano Tozza  1
Affiliations
Case Reports

Proximal weakness involvement in the first Italian case of Charcot-Marie-Tooth 2CC harboring a novel frameshift variant in NEFH

Francesco Aruta et al. J Peripher Nerv Syst. 2021 Jun.

Abstract

Charcot-Marie-Tooth (CMT) diseases are a clinically and genetically heterogeneous group of disorders. Different variants in the neurofilament heavy chain (NEFH) gene have been described to cause the CMT2CC subtype. Here we report the first Italian patient affected by CMT2CC, harboring a novel variant in NEFH. In describing our patient, we also reviewed previously CMT2CC individuals, and suggested to consider NEFH variant if patients have an axonal sensory-motor neuropathy with a prominent proximal muscles involvement with early requirement of walking aids or wheelchair, remembering a motor neuron disorder.

Keywords: CMT2CC; NEFH; hereditary neuropathy; proximal weakness.

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References

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