Nivedita U Jerath1,2, Ami Mankodi3, Thomas O Crawford4, Christopher Grunseich3, Hasna Baloui5,6, Chioma Nnamdi-Emeratom3, Alice B Schindler3, Terry Heiman-Patterson7, Roman Chrast5,6, Michael E Shy1. 1. Department of Neurology, University of Iowa Carver College of Medicine, 200 Hawkins Drive Iowa City, Iowa, 52242, USA. 2. Department of Neurology, University of Florida, PO Box 100236 Gainesville, FL, 32610. 3. Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA. 4. Department of Pediatric Neurology, Johns Hopkins University, Baltimore, Maryland, USA. 5. Department of Neuroscience, Karolinska Institutet, Stockholm, Sweden. 6. Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden. 7. Department of Neurology, Drexel University College of Medicine, Philadelphia, Pennsylvania, USA.
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.
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 CMT4Cpatients. 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 CMT4Cpatients 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.
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