@article{ef6312e1c6bc49d7817b2d23893d01c9,
title = "Charcot–Marie–Tooth Disease type 4C: Novel mutations, clinical presentations, and diagnostic challenges",
abstract = "Introduction: This study analyzes and describes atypical presentations of Charcot–Marie–Tooth disease type 4C (CMT4C). Methods: We present clinical and physiologic features of 5 patients with CMT4C caused by biallelic private mutations of SH3TC2. Results: All patients manifested scoliosis, and nerve conduction study indicated results in the demyelinating range. All patients exhibited signs of motor impairment within the first years of life. We describe 2 or more different genetic diseases in the same patient, atypical presentations of CMT, and 3 new mutations in CMT4C patients. Discussion: A new era of unbiased genetic testing has led to this small case series of individuals with CMT4C and highlights the recognition of different genetic diseases in CMT4C patients for accurate diagnosis, genetic risk identification, and therapeutic intervention. The phenotype of CMT4C, in addition, appears to be enriched by a number of features unusual for the broad CMT category. Muscle Nerve 57: 749–755, 2018.",
keywords = "CMT4C, Charcot–Marie Tooth disease, SH3TC2, autosomal recessive, hereditary motor and sensory neuropathy",
author = "Jerath, {Nivedita U.} and Ami Mankodi and Crawford, {Thomas O.} and Christopher Grunseich and Hasna Baloui and Chioma Nnamdi-Emeratom and Schindler, {Alice B.} and Terry Heiman-Patterson and Roman Chrast and Shy, {Michael E.}",
note = "Funding Information: 1Department of Neurology, University of Iowa Carver College of Medicine, 200 Hawkins Drive, Iowa City, Iowa 52242, USA 2Department of Neurology, University of Florida, PO Box 100236, Gainesville, FL, 32610 3Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA 4Department of Pediatric Neurology, Johns Hopkins University, Baltimore, Maryland, USA 5Department of Neuroscience, Karolinska Institutet, Stockholm, Sweden 6Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden 7Department of Neurology, Drexel University College of Medicine, Philadelphia, Pennsylvania, USA Funding Information: Abbreviations: ANNA, antineuronal nuclear antibody; CMT, Charcot– Marie–Tooth disease; CMT4, CMT type 4; CSF, cerebral spinal fluid; ExAc, Exome Aggregation Consortium; IVIg, intravenous immunoglobulin; MRC, Medical Research Council; NCS, nerve conduction study; PAI-1, plasminogen activator inhibitor-1; PBS, phosphate-buffered saline; PHARC, polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract; RE, recycling endosome; SCADD, short-chain acyl-coenzyme A dehydrogenase deficiency; SH3TC2, SH3 domain and tetratricopeptide repeats 2 Key words: autosomal recessive; Charcot–Marie Tooth disease; CMT4C; hereditary motor and sensory neuropathy; SH3TC2 Funding: This work was supported by intramural funding from the National Institute of Neurological Disorders and Stroke (to A.M., M.E.S.); Office of Rare Diseases (U54NS065712 to M.E.S.); Muscular Dystrophy Association (to M.E.S.); Charcot–Marie–Tooth Association (to M.E.S.); Swedish Strategic Research Area Neuroscience program (to H.B., R.C.); and an MDA clinical research training grant (to N.U.J.). Publisher Copyright: {\textcopyright} 2017 Wiley Periodicals, Inc.",
year = "2018",
month = may,
doi = "10.1002/mus.25981",
language = "English (US)",
volume = "57",
pages = "749--755",
journal = "Muscle and Nerve",
issn = "0148-639X",
publisher = "John Wiley and Sons Inc.",
number = "5",
}