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- Title
Proximal weakness involvement in the first Italian case of Charcot‐Marie‐Tooth 2CC harboring a novel frameshift variant in NEFH.
- Authors
Aruta, Francesco; Severi, Daniele; Iovino, Aniello; Spina, Emanuele; Barghigiani, Melissa; Ruggiero, Lucia; Iodice, Rosa; Santorelli, Filippo Maria; Manganelli, Fiore; Tozza, Stefano
- 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.
- Subjects
WHEELCHAIRS; NERVE tissue proteins; GENETIC disorders; MOTOR neuron diseases; LEG; CHARCOT-Marie-Tooth disease; NEURODEGENERATION; MEDICAL needs assessment
- Publication
Journal of the Peripheral Nervous System, 2021, Vol 26, Issue 2, p231
- ISSN
1085-9489
- Publication type
Article
- DOI
10.1111/jns.12454