Case series: Childhood Charcot-Marie-Tooth: Predominance of axonal subtype

eNeurologicalSci - Tập 16 - Trang 100200 - 2019
Apirada Thongsing1, Theeraphong Pho-iam2, Chanin Limwongse2,3, Surachai Likasitwattanakul1, Oranee Sanmaneechai1
1Division of Neurology, Department of Pediatrics, Faculty of Medicine, Siriraj Hospital, Mahidol University, Bangkok, Thailand
2Division of Medical Genetics Research and Laboratory, Research Department, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand
3Division of Medical Genetics, Department of Medicine, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand

Tài liệu tham khảo

Skre, 1974, Genetic and clinical aspects of Charcot-Marie-Tooth's disease, Clin. Genet., 6, 98, 10.1111/j.1399-0004.1974.tb00638.x Stojkovic, 2016, Hereditary neuropathies: an update, Rev. Neurol., 172, 775, 10.1016/j.neurol.2016.06.007 Fridman, 2015, CMT subtypes and disease burden in patients enrolled in the inherited neuropathies consortium natural history study: a crosssectional analysis, J. Neurol. Neurosurg. Psychiatry, 868, 873, 10.1136/jnnp-2014-308826 Reilly, 2011, Charcot-Marie-Tooth disease, J. Peripher. Nerv. Syst., 16, 1, 10.1111/j.1529-8027.2011.00324.x Pareyson, 2009, Diagnosis, natural history, and management of Charcot-Marie-Tooth disease, Lancet Neurol., 8, 654, 10.1016/S1474-4422(09)70110-3 Yiu, 2015, Chapter 16 - congenital and early infantile neuropathies, 289 Wilmshurst, 2003, Peripheral neuropathies of infancy, Dev. Med. Child Neurol., 45, 408, 10.1111/j.1469-8749.2003.tb00420.x Bienfait, 2007, Phenotype of Charcot-Marie-Tooth disease Type 2, Neurology, 68, 1658, 10.1212/01.wnl.0000263479.97552.94 Wilmshurst, 2011, Hereditary peripheral neuropathies of childhood: an overview for clinicians, Neuromuscul. Disord., 21, 763, 10.1016/j.nmd.2011.05.013 Murphy, 2011, Reliability of the CMT neuropathy score (second version) in Charcot-Marie-Tooth disease, J. Peripher. Nerv. Syst., 16, 191, 10.1111/j.1529-8027.2011.00350.x Burns, 2012, Validation of the Charcot-Marie-Tooth disease pediatric scale as an outcome measure of disability, Ann. Neurol., 71, 642, 10.1002/ana.23572 Mannil, 2014, Selected items from the Charcot-Marie-Tooth (CMT) neuropathy score and secondary clinical outcome measures serve as sensitive clinical markers of disease severity in CMT1A patients, Neuromuscul. Disord., 24, 1003, 10.1016/j.nmd.2014.06.431 Burns, 2013, Transitioning outcome measures: relationship between the CMTPedS and CMTNSv2 in children, adolescents, and young adults with Charcot-Marie-Tooth disease, J. Peripher. Nerv. Syst., 18, 177, 10.1111/jns5.12024 Cornett, 2016, Phenotypic variability of childhood Charcot-Marie-Tooth disease, JAMA Neurol., 73, 645, 10.1001/jamaneurol.2016.0171 Saporta, 2011, Charcot-Marie-Tooth disease subtypes and genetic testing strategies, Ann. Neurol., 69, 22, 10.1002/ana.22166 Shy, 2008, Neuropathy progression in Charcot-Marie-Tooth disease type 1A, Neurology, 70, 378, 10.1212/01.wnl.0000297553.36441.ce Dyck, 1993, Neuronal atrophy and degeneration predominantly affecting peripheral sensory and autonomic neurons, 1065 Algahtani, 2016, Congenital insensitivity to pain with anhidrosis: a report of two siblings with a novel mutation in (TrkA) NTRK1 gene in a Saudi family, J. Neurol. Sci., 370, 35, 10.1016/j.jns.2016.09.016 Dave, 2007, Hereditary sensory autonomic neuropathy and anaesthesia - a case report, Indian J. Anaesth., 51, 528 Bittles