title: Vestibular deterioration precedes hearing deterioration in the P51S COCH mutation (DFNA9): an analysis in 74 mutation carriers.
abstract: OBJECTIVE
  To analyze cochleovestibular impairment features in P51S COCH mutation carriers (n = 22) in a new, large Dutch family and to compare the results to those obtained in previously identified similar mutation carriers (n = 52). To evaluate age-related features between progressive hearing and vestibular impairment of all mutation carriers (n = 74).
  
  
  METHODS
  Family study.
  
  
  METHODS
  Regression analysis was performed in relation to age to outline the development of hearing thresholds, speech recognition scores, and vestibulo-ocular reflex time constant as the key vestibular response parameter.
  
  
  RESULTS
  Pure tone thresholds, phoneme recognition scores, and vestibular responses of the mutation carriers in the new family were essentially similar to those previously established in all other mutation carriers. Hearing started to deteriorate in all mutation carriers from 43 years of age onwards, whereas deterioration of vestibular function started from age 34.
  
  
  CONCLUSIONS
  Vestibular impairment starts earlier, progresses more rapidly, and, eventually, is more complete than hearing impairment in P51S COCH mutation carriers.
authors.affiliation: Department of Otorhinolaryngology, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands. a.bischoff@kno.umcn.nl
authors.forename: Anne M L C
authors.initials: AM
authors.lastname: Bischoff
authors.forename: Patrick L M
authors.initials: PL
authors.lastname: Huygen
authors.forename: Martijn H
authors.initials: MH
authors.lastname: Kemperman
authors.forename: Ronald J E
authors.initials: RJ
authors.lastname: Pennings
authors.forename: Steven J H
authors.initials: SJ
authors.lastname: Bom
authors.forename: Wim I M
authors.initials: WI
authors.lastname: Verhagen
authors.forename: Ronald J C
authors.initials: RJ
authors.lastname: Admiraal
authors.forename: Hannie
authors.initials: H
authors.lastname: Kremer
authors.forename: Cor W R J
authors.initials: CW
authors.lastname: Cremers
mesh_terms: D000328:Adult; D000368:Aged; D001301:Audiometry, Pure-Tone; D001309:Auditory Threshold; D002883:Chromosomes, Human, Pair 14; D015834:Cochlear Diseases / Q000235:genetics* / Q000503:physiopathology; D003638:Deafness / Q000150:complications / Q000235:genetics*; D016326:Extracellular Matrix Proteins; D005190:Family; D005260:Female; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D011506:Proteins / Q000235:genetics*; D012044:Regression Analysis; D014012:Tinnitus / Q000150:complications / Q000235:genetics; D014722:Vestibule, Labyrinth / Q000503:physiopathology*
chemical_list: C110668:COCH protein, human; D016326:Extracellular Matrix Proteins; D011506:Proteins