{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,21]],"date-time":"2025-02-21T14:59:48Z","timestamp":1740149988728,"version":"3.37.3"},"reference-count":36,"publisher":"American Academy of Audiology","issue":"9","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["j am acad audiol"],"published-print":{"date-parts":[[2021,10,1]]},"abstract":"<jats:p><jats:bold>Abstract<\/jats:bold>  <jats:bold>Background<\/jats:bold>\u2003Charcot\u2010Marie\u2010Tooth disease type 4F (CMT4F) is an autosomal recessive disorder with symptoms presenting in early adulthood. This clinical case series demonstrates atypical findings in cervical and ocular vestibular evoked myogenic\n potentials (VEMP) in siblings with CMT4F. <jats:bold>Purpose<\/jats:bold>\u2003The aim of this study was to highlight the audiovestibular test findings in CMT4F. <jats:bold>Research Design<\/jats:bold>\u2003Case series study sample: 4 siblings, 3 of whom diagnosed with CMT4F. <jats:bold>Data Collection and Analysis<\/jats:bold>\u2003Audiological\n test battery and electrophysiological tests comprising auditory brainstem response (ABR) and VEMP (both cervical and ocular) were performed in our patient population. <jats:bold>Results<\/jats:bold>\u2003Older siblings, in whom the hearing loss was present, manifested prolonged peak V latencies in ABR.\n Three out of four siblings with CMT4F showed prolongation of latencies on cervical and ocular VEMP. <jats:bold>Conclusions<\/jats:bold>\u2003In many neurodegenerative conditions, prolongation of ABR peak latencies has often been reported in the literature. There have also been a few reports of prolonged\n VEMP peak latencies. This article reports prolongation of only VEMP peak latencies (in both cervical and ocular recordings). The youngest sibling had prolongation of VEMP latencies, with ABR peak latencies being normal. The assumption we put forth that CMT4F may affect the vestibular pathway\n first requires to be tested on a larger sample and by longitudinally studying the individuals with disease condition.<\/jats:p>","DOI":"10.1055\/s-0042-1744105","type":"journal-article","created":{"date-parts":[[2022,2,17]],"date-time":"2022-02-17T23:41:09Z","timestamp":1645141269000},"page":"616-624","source":"Crossref","is-referenced-by-count":1,"title":["Audiovestibular Dysfunction in Siblings with Charcot\u2010Marie\u2010Tooth Disease 4F: A Case Series"],"prefix":"10.3766","volume":"32","author":[{"given":"Prashasti","family":"Poovaiah","sequence":"first","affiliation":[{"name":"Department of Speech Pathology & Audiology, National Institute of Mental Health & Neurosciences, Bangalore, Karnataka, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aravind Kumar","family":"Rajasekaran","sequence":"additional","affiliation":[{"name":"Department of Speech Pathology & Audiology, National Institute of Mental Health & Neurosciences, Bangalore, Karnataka, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pradeep","family":"Yuvraj","sequence":"additional","affiliation":[{"name":"Department of Speech Pathology & Audiology, National Institute of Mental Health & Neurosciences, Bangalore, Karnataka, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yamini K.","family":"Belur","sequence":"additional","affiliation":[{"name":"Department of Speech Pathology & Audiology, National Institute of Mental Health & Neurosciences, Bangalore, Karnataka, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nalini","family":"Atchayaram","sequence":"additional","affiliation":[{"name":"Department of Neurology, National Institute of Mental Health & Neurosciences, Bangalore, Karnataka, India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"2087","reference":[{"key":"ref1","first-page":"1993","volume-title":"Charcot-Marie-Tooth (CMT) Hereditary Neuropathy Overview","author":"T D Bird","year":"1998"},{"issue":"12","key":"ref2","doi-asserted-by":"crossref","first-page":"775","DOI":"10.1016\/j.neurol.2016.06.007","article-title":"Hereditary neuropathies: an update","volume":"172","author":"T Stojkovic","year":"2016","journal-title":"Rev Neurol (Paris)"},{"issue":"02","key":"ref3","doi-asserted-by":"crossref","first-page":"43","DOI":"10.23838\/pfm.2018.00163","article-title":"Clinical and genetic aspects of Charcot-Marie-Tooth disease subtypes","volume":"3","author":"S Hyun Nam","year":"2019","journal-title":"Precis Future Med."},{"key":"ref4","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1016\/j.jns.2013.10.029","article-title":"Clinical spectrum and gender differences in a large cohort of Charcot-Marie-Tooth type 1A patients","volume":"336","author":"C Colomban","year":"2014","journal-title":"J Neurol Sci"},{"key":"ref5","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1385\/NMM:8:1-2:3","article-title":"Clinical and electrophysiological aspects of Charcot-Marie-Tooth disease","volume":"8","author":"D Pareyson","year":"2006","journal-title":"Neuromolecular Med"},{"issue":"02","key":"ref6","doi-asserted-by":"crossref","first-page":"325","DOI":"10.1086\/318208","article-title":"Periaxin mutations cause recessive Dejerine-Sottas neuropathy","volume":"68","author":"C F Boerkoel","year":"2001","journal-title":"Am J Hum Genet"},{"issue":"06","key":"ref7","doi-asserted-by":"crossref","first-page":"709","DOI":"10.1002\/ana.10213","article-title":"Periaxin mutations cause a broad spectrum of demyelinating neuropathies","volume":"51","author":"H Takashima","year":"2002","journal-title":"Ann Neurol"},{"issue":"04","key":"ref8","doi-asserted-by":"crossref","first-page":"295","DOI":"10.1002\/ajmg.10223","article-title":"Anticipation in a unique family with Charcot-Marie-Tooth syndrome and deafness: delineation of the clinical features and review of the literature","volume":"108","author":"M J Kovach","year":"2002","journal-title":"Am J Med Genet"},{"key":"ref9","doi-asserted-by":"crossref","first-page":"1604","DOI":"10.1093\/brain\/awg156","article-title":"Pathology and physiology of auditory neuropathy with a novel mutation in the MPZ gene (Tyr145->Ser)","volume":"126","author":"A Starr","year":"2003","journal-title":"Brain"},{"issue":"23","key":"ref10","doi-asserted-by":"crossref","first-page":"2099","DOI":"10.1212\/WNL.0b013e318295d72a","article-title":"Vestibular impairment in patients with Charcot-Marie-tooth disease","volume":"80","author":"A Poretti","year":"2013","journal-title":"Neurology"},{"volume-title":"Method of manual pure-tone threshold audiometry [ANSI S3.21 1978 (R-1992)]","year":"1992","author":"American National Standards Institute. (ANSI)","key":"ref11"},{"volume-title":"Indian Speech, Language and Hearing Tests - The ISHA battery -1990","year":"1990","author":"S K Kacker","key":"ref12"},{"issue":"04","key":"ref13","doi-asserted-by":"crossref","first-page":"311","DOI":"10.1001\/archotol.1970.04310040005002","article-title":"Clinical experience with impedance audiometry","volume":"92","author":"J Jerger","year":"1970","journal-title":"Arch Otolaryngol"},{"volume-title":"Otoacoustic Emissions: Principles, Procedures, and Protocols","year":"2011","author":"S Dhar","key":"ref14"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1001\/archotol.1982.00790570061015","volume-title":"New e-Handbook of Auditory Evoked Potential","author":"J W Hall","year":"2015"},{"issue":"03","key":"ref16","doi-asserted-by":"crossref","first-page":"236","DOI":"10.1080\/14992027.2019.1697466","article-title":"Audiovestibular findings in a 6 year old child with pilocytic astrocytoma - a case report","volume":"59","author":"A K Rajasekaran","year":"2020","journal-title":"Int J Audiol"},{"issue":"02","key":"ref17","doi-asserted-by":"crossref","first-page":"420","DOI":"10.1016\/j.clinph.2008.10.157","article-title":"Ocular vestibular-evoked myogenic potentials elicited from monaural versus binaural acoustic stimulations","volume":"120","author":"S J Wang","year":"2009","journal-title":"Clin Neurophysiol"},{"issue":"03","key":"ref18","doi-asserted-by":"crossref","first-page":"143","DOI":"10.3342\/ceo.2008.1.3.143","article-title":"The usefulness of rectified VEMP","volume":"1","author":"K J Lee","year":"2008","journal-title":"Clin Exp Otorhinolaryngol"},{"issue":"10","key":"ref19","doi-asserted-by":"crossref","first-page":"1682","DOI":"10.1212\/01.WNL.0000161876.20552.AA","article-title":"Characteristics and clinical applications of vestibular-evoked myogenic potentials","volume":"64","author":"M S Welgampola","year":"2005","journal-title":"Neurology"},{"issue":"04","key":"ref20","doi-asserted-by":"crossref","first-page":"324","DOI":"10.1097\/00003446-199408000-00006","article-title":"A comparison of American Speech-Language Hearing Association guidelines for obtaining speech-recognition thresholds","volume":"15","author":"J A Jahner","year":"1994","journal-title":"Ear Hear"},{"issue":"06","key":"ref21","doi-asserted-by":"crossref","first-page":"573","DOI":"10.1001\/archotol.1971.00770060875006","article-title":"Diagnostic significance of PB word functions","volume":"93","author":"J Jerger","year":"1971","journal-title":"Arch Otolaryngol"},{"key":"ref22","doi-asserted-by":"crossref","first-page":"1412","DOI":"10.1093\/brain\/aws085","article-title":"Auditory function in children with Charcot-Marie-Tooth disease","volume":"135","author":"G Rance","year":"2012","journal-title":"Brain"},{"issue":"04","key":"ref23","doi-asserted-by":"crossref","first-page":"733","DOI":"10.1212\/01.WNL.0000134605.61307.DE","article-title":"Hearing loss as the first feature of late-onset axonal CMT disease due to a novel P0 mutation","volume":"63","author":"P Seeman","year":"2004","journal-title":"Neurology"},{"key":"ref24","doi-asserted-by":"crossref","first-page":"3141","DOI":"10.1093\/brain\/awv270","article-title":"Pathophysiological mechanisms and functional hearing consequences of auditory neuropathy","volume":"138","author":"G Rance","year":"2015","journal-title":"Brain"},{"issue":"04","key":"ref25","doi-asserted-by":"crossref","first-page":"415","DOI":"10.1093\/hmg\/10.4.415","article-title":"A mutation in periaxin is responsible for CMT4F, an autosomal recessive form of Charcot-Marie-Tooth disease","volume":"10","author":"A Guilbot","year":"2001","journal-title":"Hum Mol Genet"},{"key":"ref26","doi-asserted-by":"crossref","first-page":"913515","DOI":"10.1155\/2012\/913515","article-title":"Cervical vestibular-evoked myogenic potentials: norms and protocols","volume":"2012","author":"S Isaradisaikul","year":"2012","journal-title":"Int J Otolaryngol"},{"issue":"11","key":"ref27","doi-asserted-by":"crossref","first-page":"2282","DOI":"10.1016\/j.clinph.2011.04.001","article-title":"Ocular and cervical vestibular evoked myogenic potentials produced by air- and bone-conducted stimuli: comparative properties and effects of age","volume":"122","author":"S M Rosengren","year":"2011","journal-title":"Clin Neurophysiol"},{"issue":"05","key":"ref28","doi-asserted-by":"crossref","first-page":"617","DOI":"10.1007\/s00415-004-0378-3","article-title":"The diagnostic value of vestibular evoked myogenic potentials in multiple sclerosis","volume":"251","author":"F Bandini","year":"2004","journal-title":"J Neurol"},{"issue":"09","key":"ref29","doi-asserted-by":"crossref","first-page":"1872","DOI":"10.1016\/j.clinph.2012.01.022","article-title":"Ocular and cervical vestibular evoked myogenic potentials in multiple sclerosis patients","volume":"123","author":"S Gazioglu","year":"2012","journal-title":"Clin Neurophysiol"},{"issue":"02","key":"ref30","doi-asserted-by":"crossref","first-page":"523","DOI":"10.1016\/S0896-6273(00)81184-8","article-title":"Peripheral demyelination and neuropathic pain behavior in periaxin-deficient mice","volume":"26","author":"C S Gillespie","year":"2000","journal-title":"Neuron"},{"issue":"545","key":"ref31","first-page":"116","article-title":"Clinical study of vestibular-evoked myogenic potentials and auditory brainstem responses in patients with brainstem lesions","volume":"545","author":"A Itoh","year":"2001","journal-title":"Acta Otolaryngol Suppl"},{"issue":"01","key":"ref32","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1016\/S0361-9230(02)00842-0","article-title":"Vestibular-evoked myogenic potentials: a method to assess vestibulo-spinal conduction in multiple sclerosis patients","volume":"59","author":"F Sartucci","year":"2002","journal-title":"Brain Res Bull"},{"issue":"07","key":"ref33","doi-asserted-by":"crossref","first-page":"469","DOI":"10.3766\/jaaa.22.7.7","article-title":"Effects of stimulus and recording parameters on the air conduction ocular vestibular evoked myogenic potential","volume":"22","author":"O D Murnane","year":"2011","journal-title":"J Am Acad Audiol"},{"key":"ref34","doi-asserted-by":"crossref","first-page":"311","DOI":"10.1016\/j.neuropsychologia.2018.06.020","article-title":"Balancing body ownership: Visual capture of proprioception and affectivity during vestibular stimulation","volume":"117","author":"S Ponzo","year":"2018","journal-title":"Neuropsychologia"},{"issue":"04","key":"ref36","doi-asserted-by":"crossref","first-page":"483","DOI":"10.1016\/j.gaitpost.2010.02.005","article-title":"Postural instability in Charcot-Marie-Tooth type 1A patients is strongly associated with reduced somatosensation","volume":"31","author":"M H van der Linden","year":"2010","journal-title":"Gait Posture"},{"key":"ref37","doi-asserted-by":"crossref","first-page":"205","DOI":"10.12659\/MSM.889753","article-title":"Contribution of vestibular-evoked myogenic potential (VEMP) testing in the assessment and the differential diagnosis of otosclerosis","volume":"20","author":"O Tramontani","year":"2014","journal-title":"Med Sci Monit"}],"container-title":["Journal of the American Academy of Audiology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.ingentaconnect.com\/content\/aaa\/jaaa\/2021\/00000032\/00000009\/art00010","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,2,6]],"date-time":"2025-02-06T08:13:17Z","timestamp":1738829597000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ingentaconnect.com\/content\/10.1055\/s-0042-1744105"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,10,1]]},"references-count":36,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2021,10,1]]}},"alternative-id":["1050-0545(20211001)32:9L.616;1-"],"URL":"https:\/\/doi.org\/10.1055\/s-0042-1744105","relation":{},"ISSN":["1050-0545"],"issn-type":[{"type":"print","value":"1050-0545"}],"subject":[],"published":{"date-parts":[[2021,10,1]]}}}