Clinico-Electrophysiological and genetic overlaps and magnetic resonance imaging findings in Charcot–Marie– Tooth disease: A pilot study from Western India

• Published in: Annals of the Indian Academy of Neurology Vol. 20; no. 4; pp. 425 - 429
• Main Authors: Khadilkar, SatishVasant, Patil, NahushD, Kadam, NikhilDhananjay, Mansukhani, KhushnumaA, Patel, BhagyadhanA
• Format: Journal Article
• Language: English
• Published: India Medknow Publications & Media Pvt. Ltd 01.10.2017; Medknow Publications & Media Pvt Ltd; Wolters Kluwer Medknow Publications
• Subjects: Charcot-Marie-Tooth disease; Demyelination; Dental roots; Electrophysiology; Genes; Genetic analysis; Genetic screening; Genomes; Genotype & phenotype; Laboratories; Magnetic resonance imaging; magnetic resonance imaging neurography; multigene panel testing; Mutation; Neuropathy; NMR; Nuclear magnetic resonance; Patients; Peripheral myelin protein 22; Peripheral neuropathy; Permeability; PMP22; Scoliosis; Short Communication; Studies; India; Charcot–Marie–Tooth disease; PMP22; magnetic resonance imaging neurography; multigene panel testing
• ISSN: 0972-2327; 1998-3549
• DOI: 10.4103/aian.AIAN_316_17

Charcot-Marie-Tooth (CMT) disease is clinically and genetically heterogeneous. There are no published series describing clinical, electrophysiological, and genetic information on CMT from the Indian subcontinent. Magnetic resonance imaging (MRI) neurography technique provides useful information about the plexus and roots and can be employed in patients with CMT. A prospective, observational study carried out at a tertiary care hospital in Western India. CMT patients fulfilling the UK Genetic Testing Network criteria were included. They underwent clinical, electrophysiological, radiological, and multigene panel testing. Totally 22 patients (19 males, 3 females; 18 sporadic and 4 familial cases) were studied. Pes cavus (19), hammer toes (16), and scoliosis was seen in 1 patient. Electrophysiology revealed motor predominant neuropathy with 15 demyelinating (10 uniform and 5 multifocal) and 7 axonal patterns. Thickened lumbosacral plexuses on MRI neurography were evident in 6/10 studied patients, all 6 having demyelinating neuropathy. Genetic analysis identified PMP22, GJB1, SH3TC2, HSPB1, SPTLC2, MPZ, AARS, and NEFH gene mutations. This small series documents the pattern of CMT neuropathies as seen in Western India. Clinico-electrophysiological and genetic diagnosis showed general concordance some overlaps and reiterated advantages of gene panel testing in this heterogeneous group of neuropathies. MRI neurography was useful as an additional investigation to detect nerve enlargement in patients with demyelinating neuropathies.