Peripheral vestibular dysfunction in patients with primary ciliary dyskinesia: abnormal otoconial development?

Allbwn ymchwil: Cyfraniad at gyfnodolynErthygladolygiad gan gymheiriaid

  • Mitesh Patel
    Grand Challenges in Ecosystem and the Environment Initiative, Imperial College London, Silwood Park Campus, Ascot, Berkshire SL5 7PY, UK alexander.papadopulos@plants.ox.ac.uk.
  • Jo Rimmer
  • Kiran Agarwal
    Imperial College Healthcare NHS Trust
  • C Hogg
    Imperial College Healthcare NHS Trust
  • Qadeer Arshad
    Grand Challenges in Ecosystem and the Environment Initiative, Imperial College London, Silwood Park Campus, Ascot, Berkshire SL5 7PY, UK alexander.papadopulos@plants.ox.ac.uk.
  • Jonny P Harcourt
    Imperial College Healthcare NHS Trust
Hypothesis 

Patients with primary ciliary dyskinesia (PCD) have absent or reduced otoconial function compared to the normal population.

Background 

Investigations in zebrafish show that ciliation is important for the development of the otolith organs, but this has never been evaluated in humans. PCD is a congenital defect of ciliary structure. We undertook a pilot study to determine whether patients with PCD have absent or reduced otoconial function compared to the normal population.

Methods 

Vestibular function testing, including utricular centrifugation (UCF) testing, vestibular evoked myogenic potentials (VEMPs), and electronystagmography, was undertaken in five patients with known PCD. Patients also completed validated questionnaires regarding subjective balance function and symptoms.

Results 

There were markedly reduced or unobtainable VEMPs bilaterally in three of the five subjects and unilaterally in the remaining two subjects. No subject had a pathological UCF asymmetry, but three subjects showed utricular abnormalities. The vestibulo-ocular reflex (VOR) at 0.25 Hz sinusoidal rotation was normal in all subjects. There were no subjective dizzy symptoms or balance issues.

Conclusion 

We speculate that the reduced saccular and utricular function in PCD patients observed in this pilot study suggests a relationship between cilia structure and/or motility, and otoconia seeding and/or positioning. Further investigation is warranted

Iaith wreiddiolSaesneg
CyfnodolynOtology and Neurotology
Cyfrol36
Rhif y cyfnodolyn4
StatwsCyhoeddwyd - 1 Ebr 2015
Cyhoeddwyd yn allanolIe
Gweld graff cysylltiadau