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Cerebellar ataxia, neuropathy, vestibular areflexia syndrome

Ruth Leadbetter, Mark Weatherall, Luciana Pelosi
OBJECTIVE: The objective was to assess if nerve ultrasound has a role in diagnosing sensory neuronopathy in spinocerebellar ataxia syndrome (SCA) by examining if proposed diagnostic cut-off criteria of ultrasound in sensory neuronopathy caused by cerebellar ataxia neuropathy vestibular areflexia syndrome (CANVAS) were also discriminatory for SCA-related sensory neuronopathy. METHODS: Optimal diagnostic cut-off criteria for nerve size measured by diagnostic ultrasound were developed in 14 patients with CANVAS and 42 healthy controls using six peripheral nerve sites; and logistic regression and receiver operating characteristic (ROC) curves...
January 19, 2019: Clinical Neurophysiology: Official Journal of the International Federation of Clinical Neurophysiology
Kyoko Maruta, Mitsuhiro Aoki, Yoshito Sonoda
Cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS) is a rare form of multisystem ataxia defined by a triad of cerebellar impairment, bilateral vestibular hypofunction, and somatosensory deficit. Here we present a patient with CANVAS. A 76-year-old woman whose parents were cousins had noted slowly worsening gait imbalance since age 67. Peripheral sensory impairment was evident since age 73. When examined at 74, she had a frequent cough. The neurologic examinations showed scanning speech, downbeat nystagmus, pursuit eye movements with saccadic features, truncal ataxia, and mild dysmetria of the extremities...
December 29, 2018: Rinshō Shinkeigaku, Clinical Neurology
Katharina Feil, Ralf Strobl, Alexander Schindler, Siegbert Krafczyk, Nicolina Goldschagg, Claudia Frenzel, Miriam Glaser, Florian Schöberl, Andreas Zwergal, Michael Strupp
The differential diagnosis of vertigo or dizziness as a result of cerebellar disorders can be difficult as many patients with a cerebellar pathology do not present with the full spectrum of cerebellar signs. The main goal of this study was to describe the typical clinical features of these patients with vertigo or dizziness of a cerebellar origin. We reviewed the medical records of 5400 patients with vertigo and dizziness from our tertiary outpatient clinic for vertigo and balance disorders. In 459 the diagnosis of "cerebellar vertigo or dizziness" was made; 90 patients were excluded from further analysis due to evident structural changes in MRI...
December 14, 2018: Cerebellum
Luke Chen, G Michael Halmagyi
Bilateral vestibulopathy (BVP), which is due to peripheral lesions, may selectively involve certain semicircular canal (SCC). Recent eye movement recordings with search coil and video head impulse test (HIT) have provided insight in central lesions that can cause bilateral and selective SCC deficit mimicking BVP. Since neurological signs or ocular motor deficits maybe subtle or absent, it is critical to recognize central lesions correctly since there is prognostic and treatment implication. Acute floccular lesions cause bilateral horizontal SCC (HC) impairment while leaving vertical SCC function unaffected...
2018: Frontiers in Neurology
Jon Infante, Antonio García, Karla M Serrano-Cárdenas, Rocío González-Aguado, José Gazulla, Enrique M de Lucas, José Berciano
The aim of this study was to describe five patients with cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS) with chronic cough and preserved limb muscle stretch reflexes. All five patients were in the seventh decade of age, their gait imbalance having been initiated in the fifth decade. In four patients cough antedated gait imbalance between 15 and 29 years; cough was spasmodic and triggered by variable factors. Established clinical picture included severe hypopallesthesia predominating in the lower limbs with postural imbalance, and variable degree of cerebellar axial and appendicular ataxia, dysarthria and horizontal gaze-evoked nystagmus...
June 2018: Journal of Neurology
Hena Ahmad, Teresa Requena, Lidia Frejo, Marien Cobo, Alvaro Gallego-Martinez, Francisco Martin, Jose A Lopez-Escamez, Adolfo M Bronstein
Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (CANVAS) is a rare disorder with an unknown etiology. We present a British family with presumed autosomal dominant CANVAS with incomplete penetrance and variable expressivity. Exome sequencing identified a rare missense variant in the ELF2 gene at chr4:g.140058846 C > T, c.10G > A, p.A4T which segregated in all affected patients. By using transduced BE (2)-M17 cells, we found that the mutated ELF2 (mt-ELF2) gene increased ATXN2 and reduced ELOVL5 gene expression, the causal genes of type 2 and type 38 spinocerebellar ataxias...
2018: Frontiers in Genetics
Jorge Rey-Martinez, Angel Batuecas-Caletrio, Eusebi Matiño, Gabriel Trinidad-Ruiz, Xabier Altuna, Nicolas Perez-Fernandez
Background: Visually enhanced vestibulo-ocular reflex (VVOR) is a well-known bedside clinical test to evaluate visuo-vestibular interaction, with clinical applications in patients with neurological and vestibular dysfunctions. Owing to recently developed diagnostic technologies, the possibility to perform an easy and objective measurement of the VVOR has increased, but there is a lack of computational methods designed to obtain an objective VVOR measurement. Objectives: To develop a method for the assessment of the VVOR to obtain a gain value that compares head and eye velocities and to test this method in patients and healthy subjects...
2018: Frontiers in Neurology
Grace L Paley, Nathan H Kung, Robert C Bucelli, Todd P Margolis, Gregory P Van Stavern
No abstract text is available yet for this article.
September 2018: Journal of Neuro-ophthalmology: the Official Journal of the North American Neuro-Ophthalmology Society
L Pelosi, E Mulroy, R Leadbetter, D Kilfoyle, A M Chancellor, S Mossman, L Wing, T Y Wu, R H Roxburgh
BACKGROUND AND PURPOSE: Sensory neuronopathy is a cardinal feature of cerebellar ataxia neuropathy vestibular areflexia syndrome (CANVAS). Having observed that two patients with CANVAS had small median and ulnar nerves on ultrasound, we set out to examine this finding systematically in a cohort of patients with CANVAS, and compare them with both healthy controls and a cohort of patients with axonal neuropathy. We have previously reported preliminary findings in seven of these patients with CANVAS and seven healthy controls...
April 2018: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
Masakatsu Taki, Takashi Nakamura, Hiraku Matsuura, Tatsuhisa Hasegawa, Hirofumi Sakaguchi, Kanako Morita, Ryotaro Ishii, Ikuko Mizuta, Takashi Kasai, Toshiki Mizuno, Shigeru Hirano
Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (CANVAS) is a novel ataxic disorder consisting of the triad of cerebellar impairment, bilateral vestibular hypofunction, and a somatosensory deficit. We report the first Japanese case of CANVAS. The patient is a 68-year-old Japanese male. He was referred to our university for further evaluation of progressive gait disturbance and ataxia. He exhibited horizontal gaze-evoked nystagmus and sensory deficit. Nerve conduction studies showed sensory neuronopathy...
August 2018: Auris, Nasus, Larynx
Luciana Pelosi, Ruth Leadbetter, Eoin Mulroy, Andrew M Chancellor, Stuart Mossman, Richard Roxburgh
INTRODUCTION: We report preliminary findings of nerve ultrasound in patients with cerebellar ataxia neuropathy vestibular areflexia syndrome (CANVAS) who have sensory impairment due to dorsal root ganglionopathy. METHODS: The ultrasound cross-sectional area (CSA) of median and ulnar nerves of 7 CANVAS patients was compared with 7 age- and gender-matched controls and with the mean CSA of our reference population. RESULTS: The nerve CSA of CANVAS patients was significantly smaller than that of controls at all sites (P < 0...
July 2017: Muscle & Nerve
M Strupp, K Feil, M Dieterich, T Brandt
The leading symptoms of bilateral vestibulopathy (BVP) are postural imbalance and unsteadiness of gait that worsens in darkness and on uneven ground. There are typically no symptoms while sitting or lying under static conditions. A minority of patients also have movement-induced oscillopsia, in particular while walking. The diagnosis of BVP is based on a bilaterally reduced or absent function of the vestibulo-ocular reflex (VOR). This deficit is diagnosed for the high-frequency range of the angular VOR by a bilaterally pathologic bedside head impulse test (HIT) and for the low-frequency range by a bilaterally reduced or absent caloric response...
2016: Handbook of Clinical Neurology
Alexander A Tarnutzer, Christopher J Bockisch, Elena Buffone, Stefan Weiler, Lucas M Bachmann, Konrad P Weber
OBJECTIVE: Bilateral vestibular loss (BVL) is often diagnosed with great delay and an underlying cause is only identified in 50-80%. We measured horizontal and vertical semicircular canal function using the video-head-impulse test (vHIT) and hypothesized that specific vHIT-patterns may be linked to certain etiologies. METHODS: We retrospectively analyzed 109 BVL-patients linked to aminoglycoside vestibulotoxicity (n=16), Menière's disease (n=10), infectious inner-ear disorders (n=11), sensorineural hearing-loss (n=11), cerebellar-ataxia-neuropathy-vestibular-areflexia-syndrome (CANVAS, n=5), other causes (n=19) as well as those with unknown origin (n=47)...
August 2016: Clinical Neurophysiology: Official Journal of the International Federation of Clinical Neurophysiology
David J Szmulewicz, Leslie Roberts, Catriona A McLean, Hamish G MacDougall, G Michael Halmagyi, Elsdon Storey
PURPOSE OF REVIEW: Diagnosis of ataxic disorders is an important clinical challenge upon which prognostication, management, patient solace, and, above all, the hope of future treatment all rely. Heritable diseases and the possibility of affected offspring carry the added burden of portending adverse health, social and financial ramifications. RECENT FINDINGS: Cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS) is an inherited multisystem ataxia compromising cerebellar, vestibular, and sensory function...
February 2016: Neurology. Clinical Practice
Daniele Cazzato, Eleonora Dalla Bella, Patrizia Dacci, Caterina Mariotti, Giuseppe Lauria
Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS) is a newly described condition with onset in adulthood, characterized by progressive balance impairment and sensory disturbances in the lower limbs, which can severely affect patients' quality of life. Its pathogenesis remains obscure and the diagnosis challenging. We described four patients complaining of slowly progressive gait unbalance and sensory disturbances at the feet followed, after a period ranging 2-6 years, by cerebellar dysfunction...
February 2016: Journal of Neurology
Monika Figura, Małgorzata Gaweł, Anna Kolasa, Piotr Janik
CANVAS (cerebellar ataxia with neuropathy and vestibular areflexia syndrome) is a rare neurological syndrome of unknown etiology. The main clinical features include bilateral vestibulopathy, cerebellar ataxia and sensory neuropathy. An abnormal visually enhanced vestibulo-ocular reflex is the hallmark of the disease. We present a case of 58-year-old male patient who has demonstrated gait disturbance, imbalance and paresthesia of feet for 2 years. On examination ataxia of gait, diminished knee and ankle reflexes, absence of plantar reflexes, fasciculations of thigh muscles, gaze-evoked downbeat nystagmus and abnormal visually enhanced vestibulo-ocular reflex were found...
2014: Neurologia i Neurochirurgia Polska
David J Szmulewicz, Linda Seiderer, G Michael Halmagyi, Elsdon Storey, Leslie Roberts
INTRODUCTION: Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (CANVAS) is a recently described multisystem ataxia defined by the presence of cerebellar ataxia, bilateral vestibulopathy, and a somatosensory deficit. The characteristic clinical sign is an abnormal visually enhanced vestibuloocular reflex. The somatosensory deficit contributes to a significant level of disability in CANVAS. METHODS: This study was a neurophysiological investigation of 14 patients with CANVAS...
April 2015: Muscle & Nerve
Teddy Y Wu, Jennifer M Taylor, Dean H Kilfoyle, Andrew D Smith, Ben J McGuinness, Mark P Simpson, Elizabeth B Walker, Peter S Bergin, James C Cleland, David O Hutchinson, Neil E Anderson, Barry J Snow, Tim J Anderson, Laura A F Paermentier, Nick J Cutfield, Andrew M Chancellor, Stuart S Mossman, Richard H Roxburgh
Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS) is a recently recognized neurodegenerative ganglionopathy. Prompted by the presence of symptomatic postural hypotension in two patients with CANVAS, we hypothesized that autonomic dysfunction may be an associated feature of the syndrome. We assessed symptoms of autonomic dysfunction and performed autonomic nervous system testing among 26 patients from New Zealand. After excluding three patients with diabetes mellitus, 83% had evidence of autonomic dysfunction; all patients had at least one autonomic symptom and 91% had more than two symptoms...
October 2014: Brain: a Journal of Neurology
David J Szmulewicz, Catriona A McLean, Michael L Rodriguez, Andrew M Chancellor, Stuart Mossman, Duncan Lamont, Leslie Roberts, Elsdon Storey, G Michael Halmagyi
OBJECTIVE: To elucidate the neuropathology in cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (CANVAS), a novel cerebellar ataxia comprised of the triad of cerebellar impairment, bilateral vestibular hypofunction, and a peripheral sensory deficit. METHOD: Brain and spinal neuropathology in 2 patients with CANVAS, together with brain and otopathology in another patient with CANVAS, were examined postmortem. RESULTS: Spinal cord pathology demonstrated a marked dorsal root ganglionopathy with secondary tract degeneration...
April 22, 2014: Neurology
Jens Alexander Petersen, Werner W Wichmann, Konrad Peter Weber
A 75-year-old woman complained about insecure gait since age 55. Clinical examination revealed signs of cerebellar ataxia, bilateral vestibulopathy, and peripheral sensory impairment. Sensory nerve action potentials were absent. The visually enhanced vestibulo-ocular reflex (VVOR) was impaired (video on the Neurology(®) Web site at, figure 1) and the diagnosis of cerebellar ataxia (figure 2) with neuropathy and bilateral vestibular areflexia syndrome (CANVAS) was made.(1) CANVAS is considered to be a recessive disorder with a mean age at onset of 60 years...
October 29, 2013: Neurology
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