title: Vestibular function in patients with Niemann-Pick type C disease.
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.
authors.affiliation: German Center for Vertigo and Balance Disorders, Grosshadern Campus, University Hospital Munich, Marchioninistrasse 15, 81377, Munich, Germany. Tatiana.Bremova@med.uni-muenchen.de.|Department of Neurology, Grosshadern Campus, University Hospital Munich, Munich, Germany. Tatiana.Bremova@med.uni-muenchen.de.|Graduate School of Systemic Neurosciences, Ludwig-Maximilians University, Munich, Germany. Tatiana.Bremova@med.uni-muenchen.de.
authors.forename: Tatiana
authors.initials: T
authors.lastname: Bremova
authors.affiliation: German Center for Vertigo and Balance Disorders, Grosshadern Campus, University Hospital Munich, Marchioninistrasse 15, 81377, Munich, Germany.|Department of Neurology, Grosshadern Campus, University Hospital Munich, Munich, Germany.
authors.forename: Siegbert
authors.initials: S
authors.lastname: Krafczyk
authors.affiliation: German Center for Vertigo and Balance Disorders, Grosshadern Campus, University Hospital Munich, Marchioninistrasse 15, 81377, Munich, Germany.
authors.forename: Stanislavs
authors.initials: S
authors.lastname: Bardins
authors.affiliation: Villa Metabolica, Center for Paediatric and Adolescent Medicine, University Medical Center of the Johannes Gutenberg University, Mainz, Germany.
authors.forename: Jörg
authors.initials: J
authors.lastname: Reinke
authors.affiliation: German Center for Vertigo and Balance Disorders, Grosshadern Campus, University Hospital Munich, Marchioninistrasse 15, 81377, Munich, Germany.|Department of Neurology, Grosshadern Campus, University Hospital Munich, Munich, Germany.
authors.forename: Michael
authors.initials: M
authors.lastname: Strupp
mesh_terms: D000293:Adolescent; D000328:Adult; D004185:Disability Evaluation; D005260:Female; D064087:Head Impulse Test; D006801:Humans; D008297:Male; D008875:Middle Aged; D009460:Neurologic Examination; D052556:Niemann-Pick Disease, Type C / Q000150:complications*; D004856:Postural Balance; D012027:Reflex, Vestibulo-Ocular; D015837:Vestibular Diseases / Q000209:etiology*; D058585:Vestibular Evoked Myogenic Potentials; D055815:Young Adult
keywords: Gait disorders/ataxia; Lipidoses; Metabolic disease (inherited); Niemann-Pick type C; Vertigo; Vestibular evoked myogenic potentials; Vestibular function