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Abstract

Objective:

This case-control study aimed to determine whether the imbalance in Charcot-Marie-Tooth (CMT) disease is caused only by reduced proprioceptive input or whether the involvement of the vestibular nerve is an additional factor.

Methods:

Fifteen patients with CMT disease (aged 48 ± 17 years; 8 women) underwent cervical vestibular-evoked myogenic potentials, which reflect otolith-spinal reflex function, and quantitative horizontal search-coil head-impulse testing, which assesses the high-acceleration vestibulo-ocular reflex of the semicircular canals.

Results:

Relative to healthy age-matched control subjects, cervical vestibular-evoked myogenic potentials were found to be impaired in 75% of patients (average p13 latency: 23.0 ± 2.7 milliseconds, p = 0.01; average n23 latency: 29.0 ± 1.8 milliseconds, p = 0.01) and the quantitative head-impulse test in 60% of patients (average gain ± 1 SD: 0.67 ± 0.24, p < 0.001). All patients with head-impulse test impairment also showed cervical vestibular-evoked myogenic potential abnormalities, while the reverse was not true.

Conclusions:

We conclude that the neuropathic process in patients with CMT disease frequently involves the vestibular nerve and that cervical vestibular-evoked myogenic potentials may be more sensitive than quantitative head-impulse testing for detecting vestibular involvement, in particular at an early disease stage.

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Information & Authors

Information

Published In

Neurology®
Volume 80Number 23June 4, 2013
Pages: 2099-2105
PubMed: 23658384

Publication History

Received: November 9, 2012
Accepted: February 25, 2013
Published online: May 8, 2013
Published in print: June 4, 2013

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Disclosure

A. Poretti, A. Palla, A.A. Tarnutzer, and J.A. Petersen report no disclosures. K.P. Weber acts as an unpaid consultant and has received funding for travel from GN Otometrics. D. Straumann and H.H. Jung report no disclosures. Go to Neurology.org for full disclosures.

Study Funding

This study was supported by the Swiss National Science Foundation, Betty and David Koetser Foundation for Brain Research, Baasch Medicus Foundation, and Zurich Center for Integrative Human Physiology.

Authors

Affiliations & Disclosures

Andrea Poretti, MD*
From the Departments of Neurology (A. Poretti, A. Palla, A.A.T., J.A.P., K.P.W., D.S., H.H.J.) and Ophthalmology (K.P.W.), University Hospital Zurich, Switzerland; and Division of Pediatric Radiology (A. Poretti), Russell H. Morgan Department of Radiology and Radiological Science, Johns Hopkins University School of Medicine, Baltimore, MD.
Disclosure
Scientific Advisory Boards:
1.
NONE
Gifts:
1.
NONE
Funding for Travel or Speaker Honoraria:
1.
NONE
Editorial Boards:
1.
ISRN Pediatrics, Editorial Board Member since 2012
Patents:
1.
NONE
Publishing Royalties:
1.
NONE
Employment, Commercial Entity:
1.
NONE
Consultancies:
1.
NONE
Speakers' Bureaus:
1.
NONE
Other Activities:
1.
NONE
Clinical Procedures or Imaging Studies:
1.
NONE
Research Support, Commercial Entities:
1.
NONE
Research Support, Government Entities:
1.
Swiss National Science Foundation, PBZHP3-133288 (Title of the project: "Diffusion Tensor Imaging (DTI) in neonates and children: Mechanisms of normal and abnormal development of the cerebellum"), Principal investigator, 2010-2011, CHF 47000
Research Support, Academic Entities:
1.
NONE
Research Support, Foundations and Societies:
1.
Anna Mueller Grocholski-Foundation, Principal investigator, 2011-2012, CHF 35000, Title of the project: "Diffusion Tensor Imaging (DTI) in der pädiatrischen hinteren Schädelgrube: Mechanismen der normalen und pathologischen Entwicklung des Cerebellums"
Stock/stock Options/board of Directors Compensation:
1.
NONE
License Fee Payments, Technology or Inventions:
1.
NONE
Royalty Payments, Technology or Inventions:
1.
NONE
Stock/stock Options, Research Sponsor:
1.
NONE
Stock/stock Options, Medical Equipment & Materials:
1.
NONE
Legal Proceedings:
1.
NONE
Antonella Palla, MD*
From the Departments of Neurology (A. Poretti, A. Palla, A.A.T., J.A.P., K.P.W., D.S., H.H.J.) and Ophthalmology (K.P.W.), University Hospital Zurich, Switzerland; and Division of Pediatric Radiology (A. Poretti), Russell H. Morgan Department of Radiology and Radiological Science, Johns Hopkins University School of Medicine, Baltimore, MD.
Disclosure
Scientific Advisory Boards:
1.
NONE
Gifts:
1.
NONE
Funding for Travel or Speaker Honoraria:
1.
NONE
Editorial Boards:
1.
NONE
Patents:
1.
NONE
Publishing Royalties:
1.
NONE
Employment, Commercial Entity:
1.
NONE
Consultancies:
1.
NONE
Speakers' Bureaus:
1.
NONE
Other Activities:
1.
NONE
Clinical Procedures or Imaging Studies:
1.
NONE
Research Support, Commercial Entities:
1.
NONE
Research Support, Government Entities:
1.
NONE
Research Support, Academic Entities:
1.
NONE
Research Support, Foundations and Societies:
1.
NONE
Stock/stock Options/board of Directors Compensation:
1.
NONE
License Fee Payments, Technology or Inventions:
1.
NONE
Royalty Payments, Technology or Inventions:
1.
NONE
Stock/stock Options, Research Sponsor:
1.
NONE
Stock/stock Options, Medical Equipment & Materials:
1.
NONE
Legal Proceedings:
1.
NONE
Alexander A. Tarnutzer, MD
From the Departments of Neurology (A. Poretti, A. Palla, A.A.T., J.A.P., K.P.W., D.S., H.H.J.) and Ophthalmology (K.P.W.), University Hospital Zurich, Switzerland; and Division of Pediatric Radiology (A. Poretti), Russell H. Morgan Department of Radiology and Radiological Science, Johns Hopkins University School of Medicine, Baltimore, MD.
Disclosure
Scientific Advisory Boards:
1.
NONE
Gifts:
1.
NONE
Funding for Travel or Speaker Honoraria:
1.
NONE
Editorial Boards:
1.
NONE
Patents:
1.
NONE
Publishing Royalties:
1.
NONE
Employment, Commercial Entity:
1.
NONE
Consultancies:
1.
NONE
Speakers' Bureaus:
1.
NONE
Other Activities:
1.
NONE
Clinical Procedures or Imaging Studies:
1.
NONE
Research Support, Commercial Entities:
1.
NONE
Research Support, Government Entities:
1.
NONE
Research Support, Academic Entities:
1.
NONE
Research Support, Foundations and Societies:
1.
NONE
Stock/stock Options/board of Directors Compensation:
1.
NONE
License Fee Payments, Technology or Inventions:
1.
NONE
Royalty Payments, Technology or Inventions:
1.
NONE
Stock/stock Options, Research Sponsor:
1.
NONE
Stock/stock Options, Medical Equipment & Materials:
1.
NONE
Legal Proceedings:
1.
NONE
Jens A. Petersen, MD
From the Departments of Neurology (A. Poretti, A. Palla, A.A.T., J.A.P., K.P.W., D.S., H.H.J.) and Ophthalmology (K.P.W.), University Hospital Zurich, Switzerland; and Division of Pediatric Radiology (A. Poretti), Russell H. Morgan Department of Radiology and Radiological Science, Johns Hopkins University School of Medicine, Baltimore, MD.
Disclosure
Scientific Advisory Boards:
1.
NONE
Gifts:
1.
NONE
Funding for Travel or Speaker Honoraria:
1.
NONE
Editorial Boards:
1.
NONE
Patents:
1.
NONE
Publishing Royalties:
1.
NONE
Employment, Commercial Entity:
1.
NONE
Consultancies:
1.
NONE
Speakers' Bureaus:
1.
NONE
Other Activities:
1.
NONE
Clinical Procedures or Imaging Studies:
1.
NONE
Research Support, Commercial Entities:
1.
NONE
Research Support, Government Entities:
1.
NONE
Research Support, Academic Entities:
1.
NONE
Research Support, Foundations and Societies:
1.
NONE
Stock/stock Options/board of Directors Compensation:
1.
NONE
License Fee Payments, Technology or Inventions:
1.
NONE
Royalty Payments, Technology or Inventions:
1.
NONE
Stock/stock Options, Research Sponsor:
1.
NONE
Stock/stock Options, Medical Equipment & Materials:
1.
NONE
Legal Proceedings:
1.
NONE
Konrad P. Weber, MD
From the Departments of Neurology (A. Poretti, A. Palla, A.A.T., J.A.P., K.P.W., D.S., H.H.J.) and Ophthalmology (K.P.W.), University Hospital Zurich, Switzerland; and Division of Pediatric Radiology (A. Poretti), Russell H. Morgan Department of Radiology and Radiological Science, Johns Hopkins University School of Medicine, Baltimore, MD.
Disclosure
Scientific Advisory Boards:
1.
NONE
Gifts:
1.
NONE
Funding for Travel or Speaker Honoraria:
1.
received funding for travel from GN Otometrics.
Editorial Boards:
1.
NONE
Patents:
1.
NONE
Publishing Royalties:
1.
NONE
Employment, Commercial Entity:
1.
NONE
Consultancies:
1.
acts as an unpaid consultant to GN Otometrics.
Speakers' Bureaus:
1.
NONE
Other Activities:
1.
NONE
Clinical Procedures or Imaging Studies:
1.
NONE
Research Support, Commercial Entities:
1.
NONE
Research Support, Government Entities:
1.
NONE
Research Support, Academic Entities:
1.
NONE
Research Support, Foundations and Societies:
1.
(1) The Betty and David Koetser Foundation for Brain Research. (2) Forschungskredit of the University of Zurich.
Stock/stock Options/board of Directors Compensation:
1.
NONE
License Fee Payments, Technology or Inventions:
1.
NONE
Royalty Payments, Technology or Inventions:
1.
NONE
Stock/stock Options, Research Sponsor:
1.
NONE
Stock/stock Options, Medical Equipment & Materials:
1.
NONE
Legal Proceedings:
1.
NONE
Dominik Straumann, MD
From the Departments of Neurology (A. Poretti, A. Palla, A.A.T., J.A.P., K.P.W., D.S., H.H.J.) and Ophthalmology (K.P.W.), University Hospital Zurich, Switzerland; and Division of Pediatric Radiology (A. Poretti), Russell H. Morgan Department of Radiology and Radiological Science, Johns Hopkins University School of Medicine, Baltimore, MD.
Disclosure
Scientific Advisory Boards:
1.
1. German Center for Vertigo and Balance Disorders, LMU Faculty of Medicine, Munich
Gifts:
1.
NONE
Funding for Travel or Speaker Honoraria:
1.
NONE
Editorial Boards:
1.
1. Schweizer Archiv für Neurologie und Psychiatry, associate editor, since 2009 2. Journal of Neurology, editorial board, since 2011 3. Frontiers in Neuro-Otology, associate editor, since 2010
Patents:
1.
NONE
Publishing Royalties:
1.
NONE
Employment, Commercial Entity:
1.
NONE
Consultancies:
1.
NONE
Speakers' Bureaus:
1.
NONE
Other Activities:
1.
NONE
Clinical Procedures or Imaging Studies:
1.
NONE
Research Support, Commercial Entities:
1.
NONE
Research Support, Government Entities:
1.
Swiss National Science Foundation, 133125, principal investigator, 2010-2013
Research Support, Academic Entities:
1.
NONE
Research Support, Foundations and Societies:
1.
NONE
Stock/stock Options/board of Directors Compensation:
1.
NONE
License Fee Payments, Technology or Inventions:
1.
NONE
Royalty Payments, Technology or Inventions:
1.
NONE
Stock/stock Options, Research Sponsor:
1.
NONE
Stock/stock Options, Medical Equipment & Materials:
1.
NONE
Legal Proceedings:
1.
NONE
Hans H. Jung, MD
From the Departments of Neurology (A. Poretti, A. Palla, A.A.T., J.A.P., K.P.W., D.S., H.H.J.) and Ophthalmology (K.P.W.), University Hospital Zurich, Switzerland; and Division of Pediatric Radiology (A. Poretti), Russell H. Morgan Department of Radiology and Radiological Science, Johns Hopkins University School of Medicine, Baltimore, MD.
Disclosure
Scientific Advisory Boards:
1.
NONE
Gifts:
1.
NONE
Funding for Travel or Speaker Honoraria:
1.
NONE
Editorial Boards:
1.
Editorial adivisory board member of the Swiss Archive of Neurology and Psychiatry from 2008 to present Editorial advisory board member of the European Neurology 2002- 2012
Patents:
1.
NONE
Publishing Royalties:
1.
NONE
Employment, Commercial Entity:
1.
NONE
Consultancies:
1.
NONE
Speakers' Bureaus:
1.
NONE
Other Activities:
1.
NONE
Clinical Procedures or Imaging Studies:
1.
NONE
Research Support, Commercial Entities:
1.
NONE
Research Support, Government Entities:
1.
NONE
Research Support, Academic Entities:
1.
NONE
Research Support, Foundations and Societies:
1.
NONE
Stock/stock Options/board of Directors Compensation:
1.
NONE
License Fee Payments, Technology or Inventions:
1.
NONE
Royalty Payments, Technology or Inventions:
1.
NONE
Stock/stock Options, Research Sponsor:
1.
NONE
Stock/stock Options, Medical Equipment & Materials:
1.
NONE
Legal Proceedings:
1.
NONE

Notes

Correspondence to Dr. Palla: [email protected]
*
These authors contributed equally to this work.
Go to Neurology.org for full disclosures. Funding information and disclosures deemed relevant by the authors, if any, are provided at the end of the article.

Author Contributions

A. Palla, A. Poretti, D. Straumann, and H.H. Jung conceptualized and designed the study. A. Palla and A. Poretti analyzed and interpreted the data and drafted the manuscript. D. Straumann, K.P. Weber, and A.A. Tarnutzer critically revised the manuscript for intellectual content. All authors participated in the acquisition of data and read and approved the final manuscript.

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