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Cerebellar ataxia, neuropathy, vestibular areflexia syndrome

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
Michael Strupp, Marianne Dieterich, Thomas Brandt
BACKGROUND: Recent studies have extended our understanding of the pathophysiology, natural course, and treatment of vestibular vertigo. The relative frequency of the different forms is as follows: benign paroxysmal positional vertigo (BPPV) 17.1%; phobic vestibular vertigo 15%; central vestibular syndromes 12.3%; vestibular migraine 11.4%; Menière's disease 10.1%; vestibular neuritis 8.3%; bilateral vestibulopathy 7.1%; vestibular paroxysmia 3.7%. METHODS: Selective literature survey with particular regard to Cochrane reviews and the guidelines of the German Neurological Society...
July 2013: Deutsches Ärzteblatt International
Jesús J Benítez del Rosario, María Elvira Santandreu Jiménez, Manuel Lousa Gayoso
No abstract text is available yet for this article.
July 2014: Acta Otorrinolaringológica Española
Michael Strupp, Thomas Brandt
PURPOSE OF REVIEW: First, to update the diagnosis, pathophysiology, and treatment of the most frequent peripheral vestibular disorders. Second, to identify those disorders for which the diagnostic criteria are still deficient and treatment trials are still lacking. RECENT FINDINGS: Bilateral vestibulopathy can be reliably diagnosed by the head-impulse test, caloric irrigation, and vestibular-evoked myogenic potentials. A new frequent subtype has been described: cerebellar ataxia, neuropathy, and vestibular areflexia syndrome...
February 2013: Current Opinion in Neurology
Yoon-Hee Cha
PURPOSE OF REVIEW: A systematic approach to the history and examination allows the physician to diagnose the most common vestibular disorders of the brain or inner ear. However, some less common disorders require a specific familiarity so that they are not misdiagnosed as one of the more common disorders,treated inappropriately, or misattributed to a psychogenic etiology. This article describes four of the less common disorders that can present with a primary problem of dizziness and imbalance: (1) mal de débarquement syndrome, (2) bilateral vestibulopathy, (3) cerebellar ataxia, and (4) vestibular schwannomas (ie, acoustic neuromas)...
October 2012: Continuum: Lifelong Learning in Neurology
David J Szmulewicz, John A Waterston, Hamish G MacDougall, Stuart Mossman, Andrew M Chancellor, Catriona A McLean, Saumil Merchant, Peter Patrikios, G Michael Halmagyi, Elsdon Storey
The association of bilateral vestibulopathy with cerebellar ataxia was first reported in 1991 and delineated as a distinct syndrome with a characteristic and measurable clinical sign--an absent visually enhanced vestibulo-ocular reflex--in 2004. We reviewed 27 patients with this syndrome and show that a non-length-dependent sensory deficit with absent sensory nerve action potentials is an integral component of this syndrome, which we now call "cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome" (CANVAS)...
September 2011: Annals of the New York Academy of Sciences
D J Szmulewicz, J A Waterston, G M Halmagyi, S Mossman, A M Chancellor, C A McLean, E Storey
OBJECTIVE: The syndrome of cerebellar ataxia with bilateral vestibulopathy was delineated in 2004. Sensory neuropathy was mentioned in 3 of the 4 patients described. We aimed to characterize and estimate the frequency of neuropathy in this condition, and determine its typical MRI features. METHODS: Retrospective review of 18 subjects (including 4 from the original description) who met the criteria for bilateral vestibulopathy with cerebellar ataxia. RESULTS: The reported age at onset range was 39-71 years, and symptom duration was 3-38 years...
May 31, 2011: Neurology
David J Szmulewicz, Saumil N Merchant, Gabor Michael Halmagyi
No abstract text is available yet for this article.
October 2011: Otology & Neurotology
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