A Novel Asp121Asn Mutation of Myelin Protein Zero Is Associated with Late-Onset Axonal Charcot-Marie-Tooth Disease, Hearing Loss and Pupil Abnormalities

Xiaohui Duan1,2, Weihong Gu1, Ying Hao1, Renbin Wang1, Hong Wen3, Shaojie Sun1, Jinsong Jiao1, Dongsheng Fan2
1Department of Neurology, China-Japan Friendship Hospital, Beijing, China
2Department of Neurology, Peking University Third Hospital, Beijing, China
3Department of Radio-Diagnosis, China-Japan Friendship Hospital, Beijing, China

Tóm tắt

Từ khóa


Tài liệu tham khảo

Baloh, 2004, Chronic cough due to Thr124Met mutation in the peripheral myelin protein zero (MPZ gene)., Neurology, 62, 1905, 10.1212/01.WNL.0000125287.98456.23

Bienfait, 2002, Two amino-acid substitutions in the myelin protein zero gene of a case of Charcot-Marie-Tooth disease associated with light-near dissociation., Neuromuscul. Disord., 12, 281, 10.1016/S0960-8966(01)00281-4

De Jonghe, 1999, The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot-Marie-Tooth phenotype., Brain, 122, 281, 10.1093/brain/122.2.281

Gallardo, 2009, Charcot-Marie-Tooth disease type 2J with MPZ Thr124Met mutation: clinico-electrophysiological and MRI study of a family., J. Neurol., 256, 2061, 10.1007/s00415-009-5251-y

Hattori, 2003, Demyelinating and axonal features of Charcot-Marie-Tooth disease with mutations of myelin-related proteins (PMP22, MPZ and Cx32): a clinicopathological study of 205 Japanese patients., Brain, 126, 134, 10.1093/brain/awg012

Kabzińska, 2007, Late-onset Charcot-Marie-Tooth type 2 disease with hearing impairment associated with a novel Pro105Thr mutation in the MPZ gene., Am. J. Med. Genet. A, 143A, 2196, 10.1002/ajmg.a.31908

Kilfoyle, 2006, Myelin protein zero mutation His39Pro: hereditary motor and sensory neuropathy with variable onset, hearing loss, restless legs and multiple sclerosis., J. Neurol. Neurosurg. Psychiatry, 77, 963, 10.1136/jnnp.2006.090076

Misu, 2000, An axonal form of Charcot-Marie-Tooth disease showing distinctive features in association with mutations in the peripheral myelin protein zero gene (Thr124Met or Asp75Val)., J. Neurol. Neurosurg. Psychiatry, 69, 806, 10.1136/jnnp.69.6.806

Murphy, 2011, Conduction block and tonic pupils in Charcot-Marie-Tooth disease caused by a myelin protein zero p.Ile112Thr mutation., Neuromuscul. Disord., 21, 223, 10.1016/j.nmd.2010.12.010

Price, 1993, Computed tomographic analysis of pes cavus., J. Pediatr. Orthop., 13, 646, 10.1097/01241398-199313050-00017

Rossor, 2013, Clinical implications of genetic advances in Charcot-Marie-Tooth disease., Nat. Rev. Neurol., 9, 562, 10.1038/nrneurol.2013.179

Senderek, 2000, Charcot-Marie-Tooth neuropathy type 2 and P0 point mutations: two novel amino acid substitutions (Asp61Gly; Tyr119Cys) and a possible “hotspot” on Thr124Met., Brain Pathol., 10, 235, 10.1111/j.1750-3639.2000.tb00257.x

Starr, 2003, Pathology and physiology of auditory neuropathy with a novel mutation in the MPZ gene (Tyr145- > Ser)., Brain, 126, 1604, 10.1093/brain/awg156