The modified ampullar approach for vestibular implant surgery: Feasibility and its first application in a human with a long-term vestibular loss [PDF]
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 +4 more
doaj +2 more sources
Playing Music May Improve the Gait Pattern in Patients with Bilateral Caloric Areflexia Wearing a Cochlear Implant: Results from a Pilot Study [PDF]
HypothesisAuditory information through an active cochlear implant (CI) influences gait parameters in adults with bilateral caloric areflexia and profound sensorineural hearing loss.BackgroundPatients with bilateral caloric areflexia suffer from imbalance,
Ann Hallemans +8 more
doaj +3 more sources
LHFPL5 splice site variant in a cat with deafness and vestibular dysfunction. [PDF]
Abstract Vestibular disorders associated with hearing loss are indicative of inner ear dysfunction. We investigated a young cat presenting with deafness and vestibular signs. Magnetic resonance imaging of the brain revealed no abnormalities. No obvious visual impairment was reported on ophthalmological examination.
Perret AC +3 more
europepmc +3 more sources
Introduction: Cochlear implants are undeniably an effective method for the recovery of hearing function in patients with hearing loss. Objective: To describe the preoperative vestibular assessment protocol in subjects who will be submitted to cochlear ...
Roseli Saraiva Moreira Bittar +3 more
doaj +3 more sources
Neuropathology of a patient with Parkinson's disease and biallelic expansion in RFC1. [PDF]
This is the first report of neuropathology in biallelic RFC1 expansion‐associated Parkinson’s disease (PD). It shows a synucleinopathy of intraneuronal Lewy bodies consistent with the clinical PD diagnosis while neuropathological CANVAS (Cerebellar Ataxia with Neuropathy and bilateral Vestibular Areflexia) features were absent.
Sipilä J +3 more
europepmc +2 more sources
Variability in the Results of Vestibular Assessment in Patients with Genetically Confirmed Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome [PDF]
20.500.12530/87912BACKGROUND: Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS) presents an unpredictable and uneven clinical development of cerebellar ataxia, neuropathy, and vestibular areflexia.
Alfredo García-Fernández +6 more
core +1 more source
Novel Clinical Insights From a Swedish RFC1 Spectrum Disorder Cohort. [PDF]
In this study, we clinically characterized a Swedish cohort with biallelic RFC1 expansions by retrospectively enrolling 30 patients from a tertiary center and analyzing their clinical, genetic, and detailed phenotypic features. Our results suggest a Swedish founder effect in the Norrbotten region and indicate that RFC1‐spectrum disorder should be ...
Alm V +12 more
europepmc +2 more sources
Head impulse testing in bilateral vestibulopathy in patients with genetically defined CANVAS
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 +5 more
doaj +1 more source
Observation of MRI-Based Endolymphatic Hydrops and Clinical Symptoms in Patients With Definite Meniere's Disease Over Time: A Case Series. [PDF]
Purpose The assessment of endolymphatic hydrops (ELH) with specific MRI sequences underlines the ability to evaluate intralabyrinthine changes objectively and radiologically. The visualization of ELH by MRI allows correlations to be made with clinical patterns and supports the diagnosis of Ménière′s disease (MD).
Pfeiffer CJ +6 more
europepmc +2 more sources
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 +13 more
doaj +1 more source

