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Vestibular function in patients with Niemann-Pick type C disease

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Abstract

We investigated whether vestibular dysfunction may cause or contribute to postural imbalance and falls in patients with Niemann-Pick type C disease (NP-C). Eight patients with NP-C disease and 20 healthy controls were examined using the video-based head impulse test (vHIT) and caloric irrigation to investigate horizontal canal function as well as ocular- and cervical vestibular evoked myogenic potentials (o- and cVEMP), and binocular subjective visual vertical estimation (SVV) for otolith function, and static posturography. There were no significant differences in vestibulo-ocular gain, caloric excitability, o-/cVEMP measures or SVV between the two groups. Posturographic total sway path (tSP) and root mean square (RMS) were significantly higher in NP-C than in controls in 3 out of 4 conditions. The Romberg quotient (RQ) to assess the amount of visual stabilization was significantly lower in the NP-C than in the HC group. In contrast to other inherited metabolic disorders, such as Morbus Gaucher type 3, we did not find any evidence for an impairment of canal or otolith function in patients with NP-C as their cause of postural imbalance. Since RQ was low in NP-C patients, indicating proper sensory input, the observed increased postural sway is most likely due to a cerebellar dysfunction in NP-C, which may therefore, explain postural imbalance.

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Correspondence to Tatiana Bremova.

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Ethical standards

The study was performed in accordance with the Helsinki II Declaration and was approved by the ethics committee of the Ludwig-Maximilians University Medical Faculty (No. 379-12). All participants gave their informed consent prior to their inclusion in the study.

Conflicts of interest

T.B. received honoraria for lecturing from Actelion. S.K. and S.B. have nothing to report. J.R. received speaker’s honoraria from BioMarin, Shire, Genzyme and Actelion. M.S. is Joint Editor-in-Chief of the Journal of Neurology, Editor-in-Chief of Frontiers of Neuro-otology and Section Editor of F1000. He received speaker’s honoraria from Abbott, Actelion, UCB, GSK, TEVA, Heel, Biogen, Pierre-Fabre, Eisai and Hennig Pharma. He also works as a consultant for Abbott, Heel, Synthon and Actelion.

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Bremova, T., Krafczyk, S., Bardins, S. et al. Vestibular function in patients with Niemann-Pick type C disease. J Neurol 263, 2260–2270 (2016). https://doi.org/10.1007/s00415-016-8247-4

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