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.

Proximal weakness involvement in the first Italian case of Charcot-Marie-Tooth 2CC harboring a novel frameshift variant in NEFH / Aruta, F.; Severi, D.; Iovino, A.; Spina, E.; Barghigiani, M.; Ruggiero, L.; Iodice, R.; Santorelli, F. M.; Manganelli, F.; Tozza, S.. - In: JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM. - ISSN 1085-9489. - 26:2(2021), pp. 231-234. [10.1111/jns.12454]

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

Aruta F.;Severi D.;Iovino A.;Spina E.;Ruggiero L.;Iodice R.;Santorelli F. M.;Manganelli F.;Tozza S.
2021

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.
2021
Proximal weakness involvement in the first Italian case of Charcot-Marie-Tooth 2CC harboring a novel frameshift variant in NEFH / Aruta, F.; Severi, D.; Iovino, A.; Spina, E.; Barghigiani, M.; Ruggiero, L.; Iodice, R.; Santorelli, F. M.; Manganelli, F.; Tozza, S.. - In: JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM. - ISSN 1085-9489. - 26:2(2021), pp. 231-234. [10.1111/jns.12454]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11588/883198
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