Vestibular impairment in Charcot-Marie-Tooth disease type 4C

Data de publicació: 01/07/2014

Autors de IIS La Fe

Herminio Pérez Garrigues

Autor
Rafael Sivera Mascaró

Autor
Juan Jesús Vílchez Padilla

Autor
Carmen Espinos Armero

Autor
Francesc Palau Martinez

Autor
Teresa Sevilla Mantecón

Autor

Grups d'Investigació

Biomedicina Molecular, Celular y Genómica

Leader

José María Millán Salvador
Patología Neuromuscular y Ataxias

Investigador Principal

Teresa Sevilla Mantecón

Abstract

Charcot-Marie-Tooth disease type 4C (CMT4C) is a hereditary neuropathy with prominent unsteadiness. The objective of the current study is to determine whether the imbalance in CMT4C is caused only by reduced proprioceptive input or if vestibular nerve involvement is an additional factor. We selected 10 CMT4C patients and 10 age-matched and sex-matched controls. We performed a comprehensive evaluation of the vestibular system, including video Head Impulse Test, bithermal caloric test, galvanic stimulation test and skull vibration-induced nystagmus test. None of the patients experienced dizziness, spontaneous or gaze-evoked nystagmus, but all had significant vestibular impairment when tested when compared to controls. Seven had completely unexcitable vestibular systems and abnormal vestibuloocular reflex. There was no correlation between the degree of vestibulopathy and age or clinical severity. Significant vestibular impairment is a consistent finding in CMT4C and is present early in disease evolution. The profound imbalance that is so disabling in these patients may result from a combination of proprioceptive loss and vestibular neuropathy, and this would modify the recommended rehabilitation strategies.

Dades de la publicació

ISSN/ISSNe:: 0022-3050, 1468-330X
Tipus:: Letter
Pàgines:: 824-118
DOI:: 10.1136/jnnp-2013-307421
PubMed:: 24614092
Factor d'Impacte:: 2,958 SCImago ℠
Quartil:: Q1 SCImago ℠

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Mètriques

Filiacions

Pérez-Garrigues H:: Departments of Otology, Valencia, Spain
Sivera R:: Departments of Neurology, Hospital Universitari i Politècnic La Fe, Valencia, Spain
Vílchez JJ:: Departments of Neurology, Hospital Universitari i Politècnic La Fe, Valencia, Spain Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED), Valencia, Spain Department of Medicine, Ciudad Real, Spain
Espinós C:: Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Valencia, Spain Program on Rare and Genetic Diseases, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain Department of Genetics, University of Valencia, Ciudad Real, Spain
Palau F:: Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Valencia, Spain Program on Rare and Genetic Diseases, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain School of Medicine, University of Castilla-La Mancha, Ciudad Real, Spain
Sevilla T:: Departments of Neurology, Hospital Universitari i Politècnic La Fe, Valencia, Spain Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED), Valencia, Spain Department of Medicine, Ciudad Real, Spain