Results 11 to 20 of about 1,070 (114)

Head impulse testing in bilateral vestibulopathy in patients with genetically defined CANVAS

Brain and Behavior, 2022
Background To investigate the association between disease duration and the severity of bilateral vestibulopathy in individuals with complete or incomplete CANVAS (Cerebellar Ataxia with Neuropathy and Vestibular Areflexia Syndrome) and biallelic RFC1 ...
Max Borsche, Vera Tadic, Inke R. König, Katja Lohmann, Christoph Helmchen, Norbert Brüggemann   +5 more
doaj   +1 more source

Speech, Gait, and Vestibular Function in Cerebellar Ataxia with Neuropathy and Vestibular Areflexia Syndrome

Brain Sciences, 2023
(1) Background: Cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS) is characterized by late-onset cerebellar ataxia, bilateral vestibulopathy, and sensory neuronopathy mostly due to biallelic RFC1 expansion.
Giulia Di Rauso, Andrea Castellucci, Francesco Cavallieri, Andrea Tozzi, Valentina Fioravanti, Edoardo Monfrini, Annalisa Gessani, Jessica Rossi, Isabella Campanini, Andrea Merlo, Dario Ronchi, Manuela Napoli, Rosario Pascarella, Sara Grisanti, Giuseppe Ferrulli, Rossella Sabadini, Alessio Di Fonzo, Angelo Ghidini, Franco Valzania   +18 more
doaj   +1 more source

Multifaceted and Age-Dependent Phenotypes Associated With Biallelic PNPLA6 Gene Variants: Eight Novel Cases and Review of the Literature

Frontiers in Neurology, 2022
A wide spectrum of neurodegenerative diseases has been associated with pathogenic variants in the PNPLA6 (patatin-like phospholipase domain-containing protein 6) gene, including spastic paraplegia type 39, Gordon—Holmes, Boucher—Neuhauser, Oliver—Mc ...
Lorenzo Nanetti, Daniela Di Bella, Stefania Magri, Mario Fichera, Elisa Sarto, Anna Castaldo, Alessia Mongelli, Silvia Baratta, Silvia Fenu, Marco Moscatelli, Maria Teresa Bonati, Andrea Martinuzzi, Caterina Mariotti, Franco Taroni   +13 more
doaj   +1 more source

Usher Syndrome

Audiology Research, 2022
Usher syndrome (USH) is the most common genetic condition responsible for combined loss of hearing and vision. Balance disorders and bilateral vestibular areflexia are also observed in some cases.
Alessandro Castiglione, Claes Möller
doaj   +1 more source

Which Came First? When Usher Syndrome Type 1 Couples with Neuropsychiatric Disorders

Audiology Research, 2023
Usher syndrome (USH) is an autosomal recessive disorder characterized by sensorineural hearing loss (HL), retinopathy, and vestibular areflexia, with variable severity.
Paola Tesolin, Aurora Santin, Anna Morgan, Stefania Lenarduzzi, Elisa Rubinato, Giorgia Girotto, Beatrice Spedicati   +6 more
doaj   +1 more source

A clinical case of cerebellar ataxia with neuropathy and vestibular areflexia syndrome in the presence of polycythemia vera

Неврология, нейропсихиатрия, психосоматика, 2019
Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (CANVAS) is a slowly progressive ataxic disorder characterized by the triad of cerebellar impairment, bilateral vestibular hypofunction, and sensory polyneuropathy.
Sh. M. Safin, B. A. Bakirov, Kh. P. Derevyanko, D. E. Baikov, M. M. Khafizov   +4 more
doaj   +1 more source

Saccades Matter: Reduced Need for Caloric Testing of Cochlear Implant Candidates by Joint Analysis of v-HIT Gain and Corrective Saccades

Frontiers in Neurology, 2021
Objectives: Video head impulse test (v-HIT) is a quick, non-invasive and relatively cheap test to evaluate vestibular function compared to the caloric test.
Constanza Fuentealba Bassaletti, Babette F. van Esch, Jeroen J. Briaire, Peter Paul G. van Benthem, Erik F. Hensen, Johan H. M. Frijns, Johan H. M. Frijns   +6 more
doaj   +1 more source

The modified ampullar approach for vestibular implant surgery: Feasibility and its first application in a human with a long-term vestibular loss

Frontiers in Neurology, 2012
Objective: To assess, for the first time in a human with a long-term vestibular loss, a modified approach to the ampullae and the feasibility of evoking a VOR by ampullar stimulation.Material and methods: Peroperative stimulation of the ampullae, using ...
Raymond eVan De Berg, Nils eGuinand, Jean-Philippe eGUYOT, Herman eKingma, Robert eStokroos   +4 more
doaj   +1 more source

The vestibular implant: Quo vadis?

Frontiers in Neurology, 2011
Objective: to assess the progress of the development of the vestibular implant and its feasibility short-term. Data sources: a search was performed in Pubmed, Medline and Embase. Key words used were vestibular prosth* and vestibular implant.
Raymond eVan De Berg, Nils eGuinand, Jean-Philippe eGUYOT, Herman eKingma, Robert eStokroos   +4 more
doaj   +1 more source

The vestibular implant: Frequency-dependency of the electrically evoked Vestibulo-Ocular Reflex in humans

Frontiers in Systems Neuroscience, 2015
The Vestibulo-Ocular Reflex (VOR) shows frequency-dependent behavior. This study investigated whether the characteristics of the electrically evoked VOR (eVOR) elicited by a vestibular implant, showed the same frequency-dependency.Twelve vestibular ...
Raymond eVan De Berg, Raymond eVan De Berg, Nils eGuinand, Khoa eNguyen, Maurizio eRanieri, Samuel eCavuscens, Jean-Philippe eGUYOT, Robert eStokroos, Herman eKingma, Herman eKingma, Angelica ePerez Fornos   +10 more
doaj   +1 more source