Peripheral vestibular dysfunction in patients with primary ciliary dyskinesia: abnormal otoconial development?
Research output: Contribution to journal › Article › peer-review
Standard Standard
In: Otology and Neurotology, Vol. 36, No. 4, 01.04.2015.
Research output: Contribution to journal › Article › peer-review
HarvardHarvard
APA
CBE
MLA
VancouverVancouver
Author
RIS
TY - JOUR
T1 - Peripheral vestibular dysfunction in patients with primary ciliary dyskinesia: abnormal otoconial development?
AU - Patel, Mitesh
AU - Rimmer , Jo
AU - Agarwal, Kiran
AU - Hogg , C
AU - Arshad, Qadeer
AU - Harcourt, Jonny P
PY - 2015/4/1
Y1 - 2015/4/1
N2 - 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
AB - 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
M3 - Article
VL - 36
JO - Otology and Neurotology
JF - Otology and Neurotology
SN - 1531-7129
IS - 4
ER -