Results 1 to 10 of about 1,070 (114)

Update on Cerebellar Ataxia with Neuropathy and Bilateral Vestibular Areflexia Syndrome (CANVAS). [PDF]

Cerebellum, 2021
AbstractThe syndrome of cerebellar ataxia with neuropathy and bilateral vestibular areflexia (CANVAS) has emerged progressively during the last 30 years. It was first outlined by the neurootology/neurophysiology community in the vestibular areflexic patients, through the description of patients slowly developing late-onset cerebellar ataxia and ...
Dupré M, Hermann R, Froment Tilikete C.
europepmc   +5 more sources

Clinical and functional characteristics, possible causes, and impact of chronic cough in patients with cerebellar ataxia, neuropathy, and bilateral vestibular areflexia syndrome (CANVAS). [PDF]

J Neurol, 2023
AbstractCerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (CANVAS) is an hereditary autosomal recessive disease. Recent studies propose including chronic cough (CC) as a symptom of CANVAS. For 10 patients with CANVAS as genetically confirmed by biallelic expansion of the AAGG repeat motif (AAGGGexp) in intron 2 of ...
Palones E, Curto E, Plaza V, Gonzalez-Quereda L, Segarra-Casas A, Querol L, Bertoletti F, Rodriguez MJ, Gallano P, Crespo-Lessmann A.   +9 more
europepmc   +5 more sources

Novel Clinical Insights From a Swedish RFC1 Spectrum Disorder Cohort. [PDF]

Eur J Neurol
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, Säll L, Samuelsson K, Press R, Arnardottir S, Lindstrand A, Niemelä V, Terinte L, Nordin F, Svenningsson P, Nilsson D, Verrecchia L, Paucar M.   +12 more
europepmc   +2 more sources

Cerebellar Ataxia With Neuropathy and Bilateral Vestibular Areflexia Syndrome Coexisting With JAK2-Positive Polycythemia Vera and Myelofibrosis. [PDF]

Ochsner J
Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (CANVAS) is a rare, progressive, neurodegenerative disorder characterized by late-onset ataxia, bilateral vestibular impairment, and sensory neuropathy.A 51-year-old male presented to the hospital with worsening dizziness, tremulousness of limbs, and falls during the ...
Saibaba J, Selvaraj J, Viswanathan S, Pillai V.   +3 more
europepmc   +3 more sources

Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome: a histopathologic case report. [PDF]

Otol Neurotol, 2011
Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (CANVAS) represents a widespread impairment of the various systems involved in balance: cerebellar, proprioceptive and vestibular1. The characteristic clinical sign of this syndrome is the impaired visually enhanced vestibulo-ocular reflex (VVOR), which represents combined ...
Szmulewicz DJ, Merchant SN, Halmagyi GM.
europepmc   +4 more sources

LHFPL5 splice site variant in a cat with deafness and vestibular dysfunction. [PDF]

Anim Genet
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, Guevar J, Jagannathan V, Leeb T.   +3 more
europepmc   +2 more sources

Acute Inner Ear Complications of Stapes Surgery: Value of Delayed Postcontrast 3D-FLAIR MRI Sequences. [PDF]

OTO Open
Abstract Objective To describe and assess the usefulness of delayed postcontrast three‐dimensional fluid‐attenuated inversion recovery (3D‐FLAIR) sequences on 3‐Tesla (3 T) magnetic resonance imaging (MRI) in patients presenting with acute inner ear complications after stapes surgery. Study Design Case series.
Fanet J, Bourdoncle S, Poillon G, Daval M, Levy D, Ayache D, Gargula S.   +6 more
europepmc   +2 more sources

The evolution of vestibular function and health-related quality of life in bilateral vestibulopathy. [PDF]

Sci Rep
Little is known about the evolution of vestibular dysfunction and health-related quality of life in bilateral vestibulopathy patients over time. Furthermore, it is unknown whether etiology influences the evolution.
Loos E, Van Stiphout L, Lucieer F, Guinand N, Pérez-Fornos A, Van Rompaey V, Desloovere C, Denys S, Verhaert N, van de Berg R.   +9 more
europepmc   +2 more sources

ITPR1 Deletion in a Patient With Sensory Ataxic Neuropathy and Sjögren Syndrome. [PDF]

J Peripher Nerv Syst
ABSTRACT Background Sensory ataxic neuropathies (SAN) are rare large fibre sensory neuropathies characterised by progressive sensory loss and ataxia. They may be inherited or acquired. When inherited they are more commonly seen as part of a broader syndrome involving cerebellar ataxia or mitochondrial dysfunction.
Haddad S, Poh R, Hehir J, Polke JM, Blake J, Reilly MM.   +5 more
europepmc   +2 more sources

An exceptional case of bilateral vestibular areflexia complicating acute otitis media [PDF]

Heighpubs Otolaryngology and Rhinology, 2020
Introduction: Bilateral vestibular areflexia is a rare pathological entity whose most frequent etiology is drug ototoxicity. We report an unusual case of bilateral vestibular areflexia complicating acute otitis media through which we raise the difficulties of diagnosis and therapeutic management of this pathology.
Chiraz Halwani, Sarra Zribi, Salem Bouomrani   +2 more
openaire   +1 more source