Novel findings in a Swedish RFC1-related disorder cohort
Objective: This study aims to clinically characterize a Swedish cohort of patients featuring RFC1 CANVAS/spectrum disorders. Background: Biallelic pentanucleotide expansions in the RFC1 gene are…Frequency and Phenotype of GAA-FGF14 Disease in Bilateral Vestibulopathy Syndromes: Insights from Repeat Expansion Carriers, Including a Dual Diagnosis with RFC1-Related CANVAS
Objective: To study the frequency and phenotype of GAA-FGF14 expansions in a large cohort of patients with bilateral vestibulopathy (BVP) syndromes. Background: Intronic GAA repeat expansions in FGF14 cause spinocerebellar ataxia…Balance evaluation and vestibular rehabilitation in patients with Hereditary Spastic Paraplegia – randomized clinical trial
Objective: This study aimed to assess balance and vestibular rehabilitation using virtual reality (VR) in patients with Hereditary Spastic Paraplegias (HSP). Background: HSP constitute a…Vestibulo-ocular reflex and cognitive dysfunction in denovo Parkinson’s disease
Objective: To investigate the relationship between cognitive function and vestibulo-ocular reflex (VOR) gain in denovo Parkinson’s disease (PD). Background: Saccades are rapid eye movements necessary…Association of vestibular disorders with autonomic dysfunction in Parkinson’s Disease
Objective: Investigation of changes in VOR and VCR parameters in PDpatients in relation to motor and autonomic disorders severity. Background: Vestibulo-ocular reflex (VOR) and vestibular-colic…The role of structural changes in the retina and the vertical vestibulo-ocular reflex abnormality in gait disorders in Parkinson`s disease
Objective: Our goal was to investigate retinal structural changes as well as changes in visual cortex in PD patients with suppression deficiency of VOR and…Neurotological evaluation on cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (canvas)
Objective: To describe the alterations observed in the vestibular testing in patients with CANVAS. Background: The Cerebellar Ataxia with Neuropathy and Bilateral Vestibular Areflexia Syndrome…Abnormalities of vestibular-evoked myogenic potentials are associated with REM sleep without atonia in early Parkinson’s disease and idiopathic REM sleep behavior disorder
Objective: To explore the brainstem lesion reflected by means of vestibular-evoked myogenic potentials(VEMPs) and its association with REM sleep without atonia(RSWA) and other clinical assessments…An overview of vestibular function in Parkinson’s disease
Objective: To determine if people with Parkinson’s disease (PD) have greater vestibular dysfunction than age-matched healthy people (HC). Background: The vestibular system is crucial for…A homozygous pentanucleotide repeat expansion in cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS)
Objective: To identify the genetic cause in patients with CANVAS recruited at the University Hospital of Schleswig-Holstein, Campus Lübeck. Background: CANVAS is a late-onset neurological…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.