Proximal weakness involvement in the first Italian case of Charcot‐Marie‐Tooth 2CC harboring a novel frameshift variant in NEFH. Issue 2 (19th May 2021)

• Record Type: Journal Article
• Authors: Aruta, Francesco; Severi, Daniele; Iovino, Aniello; Spina, Emanuele; Barghigiani, Melissa; Ruggiero, Lucia; Iodice, Rosa; Santorelli, Filippo Maria; Manganelli, Fiore; Tozza, Stefano
• Is Part Of: Journal of the peripheral nervous system. Volume 26:Issue 2(2021)
• Page Start: 231
• Page End: 234
• Publication Date: 2021-05-19
• Subjects: CMT2CC -- hereditary neuropathy -- NEFH -- proximal weakness; Nervous system -- Periodicals; Nerves, Peripheral -- Diseases -- Periodicals; Peripheral Nervous System Diseases -- Periodicals; Peripheral Nervous System -- Periodicals; 612.81
• DOI: 10.1111/jns.12454
• Languages: English
• ISSNs: 1085-9489

Abstract

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.