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Cerebellar ataxia, neuropathy, vestibular areflexia syndrome

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https://read.qxmd.com/read/32367146/-canvas-case-report-on-a-novel-repeat-expansion-disorder-with-late-onset-ataxia
#1
Tobias Meindl, Isabell Cordts, Anna-Lisa Scherzer, Paul Lingor, Christian Maegerlein, Valentina Galassi Deforie, Natalia Dominik, Henry Houlden, Andrea Cortese, Marcus Deschauer
This article presents the case of a 74-year-old female patient who first developed a progressive disease with sensory neuropathy, cerebellar ataxia and bilateral vestibulopathy at the age of 60 years. The family history was unremarkable. Magnetic resonance imaging (MRI) showed atrophy of the cerebellum predominantly in the vermis and atrophy of the spinal cord. The patient was given the syndromic diagnosis of cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS). In 2019 the underlying genetic cause of CANVAS was discovered to be an intronic repeat expansion in the RFC1 gene with autosomal recessive inheritance...
May 4, 2020: Der Nervenarzt
https://read.qxmd.com/read/32066831/long-read-sequencing-identifies-the-pathogenic-nucleotide-repeat-expansion-in-rfc1-in-a-japanese-case-of-canvas
#2
Haruko Nakamura, Hiroshi Doi, Satomi Mitsuhashi, Satoko Miyatake, Kazutaka Katoh, Martin C Frith, Tetsuya Asano, Yosuke Kudo, Takuya Ikeda, Shun Kubota, Misako Kunii, Yu Kitazawa, Mikiko Tada, Mitsuo Okamoto, Hideto Joki, Hideyuki Takeuchi, Naomichi Matsumoto, Fumiaki Tanaka
Recently, a recessively inherited intronic repeat expansion in replication factor C1 (RFC1) was identified in cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (CANVAS). Here, we describe a Japanese case of genetically confirmed CANVAS with autonomic failure and auditory hallucination. The case showed impaired uptake of iodine-123-metaiodobenzylguanidine and 123 I-ioflupane in the cardiac sympathetic nerve and dopaminergic neurons, respectively, by single-photon emission computed tomography...
February 18, 2020: Journal of Human Genetics
https://read.qxmd.com/read/32040566/cerebellar-ataxia-neuropathy-vestibular-areflexia-syndrome-due-to-rfc1-repeat-expansion
#3
Andrea Cortese, Stefano Tozza, Wai Yan Yau, Salvatore Rossi, Sarah J Beecroft, Zane Jaunmuktane, Zoe Dyer, Gianina Ravenscroft, Phillipa J Lamont, Stuart Mossman, Andrew Chancellor, Thierry Maisonobe, Yann Pereon, Cecile Cauquil, Silvia Colnaghi, Giulia Mallucci, Riccardo Curro, Pedro J Tomaselli, Gilbert Thomas-Black, Roisin Sullivan, Stephanie Efthymiou, Alexander M Rossor, Matilde Laurá, Menelaos Pipis, Alejandro Horga, James Polke, Diego Kaski, Rita Horvath, Patrick F Chinnery, Wilson Marques, Cristina Tassorelli, Grazia Devigili, Lea Leonardis, Nick W Wood, Adolfo Bronstein, Paola Giunti, Stephan Züchner, Tanya Stojkovic, Nigel Laing, Richard H Roxburgh, Henry Houlden, Mary M Reilly
Ataxia, causing imbalance, dizziness and falls, is a leading cause of neurological disability. We have recently identified a biallelic intronic AAGGG repeat expansion in replication factor complex subunit 1 (RFC1) as the cause of cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS) and a major cause of late onset ataxia. Here we describe the full spectrum of the disease phenotype in our first 100 genetically confirmed carriers of biallelic repeat expansions in RFC1 and identify the sensory neuropathy as a common feature in all cases to date...
February 1, 2020: Brain: a Journal of Neurology
https://read.qxmd.com/read/31887755/cerebellar-dizziness-and-vertigo-etiologies-diagnostic-assessment-and-treatment
#4
Andreas Zwergal, Katharina Feil, Roman Schniepp, Michael Strupp
Cerebellar dizziness and vertigo account for approximately 10% of diagnoses in a tertiary dizziness center. This term summarizes a large group of disorders with chronic (degenerative, hereditary, acquired cerebellar ataxias), recurrent (episodic ataxias), or acute (stroke, inflammation) presentations. Key to the diagnosis is a comprehensive examination of central ocular motor and vestibular function. Patients with cerebellar dizziness and vertigo usually show a pattern of deficits in smooth pursuit, gaze-holding, saccade accuracy, or fixation-suppression of the vestibulo-ocular reflex...
February 2020: Seminars in Neurology
https://read.qxmd.com/read/31770124/eye-movements-in-demyelinating-autoimmune-and-metabolic-disorders
#5
Jorge C Kattah, David S Zee
PURPOSE OF REVIEW: In the last three decades, the use of eye movements and vestibular testing in many neurological disorders has accelerated, primarily because of practical technologic developments. Although the acute vestibular syndrome is a prime example of this progress, more chronic neurologic and systemic disorders have received less attention. We focus here on recent contributions relating vestibular and ocular motor abnormalities in inflammatory, demyelinating, metabolic, and peripheral nervous system disorders RECENT FINDINGS: Vestibular abnormalities have been identified in acute demyelinating neuropathies (AIDP), in novel genetic mutations responsible for CANVAS (cerebellar ataxia, neuropathy vestibular areflexia syndrome), and in other inherited neuropathies (variants of Charcot-Marie-Tooth disease)...
February 2020: Current Opinion in Neurology
https://read.qxmd.com/read/31418719/is-cerebellar-ataxia-neuropathy-and-vestibular-areflexia-syndrome-canvas-a-vestibular-ganglionopathy
#6
Dario Andres Yacovino, Estefania Zanotti, Timothy Carl Hain
OBJECTIVES: CANVAS is an acronym for cerebellar ataxia, neuropathy and vestibular areflexia syndrome. Limited autopsy data has suggested that CANVAS is caused by a focal dorsal root ganglionopathy that damages Scarpa's (vestibular) ganglion, but spares the Spiral (hearing) ganglion. If the vestibular areflexia of CANVAS is in fact due to ganglionopathy, then there should be global reduction of all vestibular responses. MATERIALS AND METHODS: With this hypothesis in mind, a retrospective review of 5 subjects who met the clinical criteria for CANVAS was performed...
August 2019: Journal of International Advanced Otology
https://read.qxmd.com/read/31414248/vemps-and-dysautonomia-assessment-in-definite-cerebellar-ataxia-neuropathy-vestibular-areflexia-syndrome-canvas-a-case-series-study
#7
David Moreno-Ajona, Laura Álvarez-Gómez, Raquel Manrique-Huarte, Estefanía Rivas, Eduardo Martínez-Vila, Nicolás Pérez-Fernández
Cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS) is a recently described slowly progressive ataxia with severe imbalance due to the compromise of three of the four sensory inputs for balance, leaving only vision unaffected. Bilateral vestibulopathy is present but saccular and utricular function, measured by vestibular evoked myogenic potentials (VEMPs), has not been widely studied in these patients. Dysautonomia has been reported but is not among the diagnostic criteria. We performed a database analysis to identify patients evaluated between 2003 and 2019 with probable diagnosis of CANVAS by using key words "bilateral vestibulopathy and/or cerebellar ataxia and/or sensory polyneuropathy...
August 15, 2019: Cerebellum
https://read.qxmd.com/read/31346473/the-cerebellar-phenotype-of-charcot-marie-tooth-neuropathy-type-4c
#8
Humberto Skott, Cristina Muntean-Firanescu, Kristin Samuelsson, Luca Verrecchia, Per Svenningsson, Helena Malmgren, Carmen Cananau, Alberto J Espay, Rayomand Press, Göran Solders, Martin Paucar
Background: Friedreich ataxia (FRDA) is the most common familial ataxia syndrome in Central and Southern Europe but rare in Scandinavia. Biallelic mutations in SH3 domain and tetratricopeptide repeats 2 ( SH3TC2) cause Charcot-Marie-Tooth disease type 4C (CMT4C), one of the most common autosomal recessive polyneuropathies associated with early onset, slow disease progression and scoliosis. Beyond nystagmus reported in some patients, neither ataxia nor cerebellar atrophy has been documented as part of the CMT4C phenotype...
2019: Cerebellum & Ataxias
https://read.qxmd.com/read/31343428/charcot-marie-tooth-disease-and-related-disorders-an-evolving-landscape
#9
Matilde Laurá, Menelaos Pipis, Alexander M Rossor, Mary M Reilly
PURPOSE OF REVIEW: Charcot-Marie-Tooth (CMT) disease and related disorders are the commonest group of inherited neuromuscular diseases and represent a heterogeneous group of disorders. This review will cover recent advances in genetic diagnosis and the evolving genetic and phenotype landscape of this disease group. We will review recent evidence of the increasingly recognized phenotypic overlap with other neurodegenerative conditions including hereditary spastic paraplegia, hereditary ataxias and mitochondrial diseases and highlight the importance of deep phenotyping to inform genetic diagnosis and prognosis...
October 2019: Current Opinion in Neurology
https://read.qxmd.com/read/31230722/bioinformatics-based-identification-of-expanded-repeats-a-non-reference-intronic-pentamer-expansion-in-rfc1-causes-canvas
#10
Haloom Rafehi, David J Szmulewicz, Mark F Bennett, Nara L M Sobreira, Kate Pope, Katherine R Smith, Greta Gillies, Peter Diakumis, Egor Dolzhenko, Michael A Eberle, María García Barcina, David P Breen, Andrew M Chancellor, Phillip D Cremer, Martin B Delatycki, Brent L Fogel, Anna Hackett, G Michael Halmagyi, Solange Kapetanovic, Anthony Lang, Stuart Mossman, Weiyi Mu, Peter Patrikios, Susan L Perlman, Ian Rosemergy, Elsdon Storey, Shaun R D Watson, Michael A Wilson, David S Zee, David Valle, David J Amor, Melanie Bahlo, Paul J Lockhart
Genomic technologies such as next-generation sequencing (NGS) are revolutionizing molecular diagnostics and clinical medicine. However, these approaches have proven inefficient at identifying pathogenic repeat expansions. Here, we apply a collection of bioinformatics tools that can be utilized to identify either known or novel expanded repeat sequences in NGS data. We performed genetic studies of a cohort of 35 individuals from 22 families with a clinical diagnosis of cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (CANVAS)...
June 12, 2019: American Journal of Human Genetics
https://read.qxmd.com/read/30926972/biallelic-expansion-of-an-intronic-repeat-in-rfc1-is-a-common-cause-of-late-onset-ataxia
#11
Andrea Cortese, Roberto Simone, Roisin Sullivan, Jana Vandrovcova, Huma Tariq, Wai Yan Yau, Jack Humphrey, Zane Jaunmuktane, Prasanth Sivakumar, James Polke, Muhammad Ilyas, Eloise Tribollet, Pedro J Tomaselli, Grazia Devigili, Ilaria Callegari, Maurizio Versino, Vincenzo Salpietro, Stephanie Efthymiou, Diego Kaski, Nick W Wood, Nadja S Andrade, Elena Buglo, Adriana Rebelo, Alexander M Rossor, Adolfo Bronstein, Pietro Fratta, Wilson J Marques, Stephan Züchner, Mary M Reilly, Henry Houlden
Late-onset ataxia is common, often idiopathic, and can result from cerebellar, proprioceptive, or vestibular impairment; when in combination, it is also termed cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS). We used non-parametric linkage analysis and genome sequencing to identify a biallelic intronic AAGGG repeat expansion in the replication factor C subunit 1 (RFC1) gene as the cause of familial CANVAS and a frequent cause of late-onset ataxia, particularly if sensory neuronopathy and bilateral vestibular areflexia coexist...
April 2019: Nature Genetics
https://read.qxmd.com/read/30713001/nerve-ultrasound-as-a-diagnostic-tool-for-sensory-neuronopathy-in-spinocerebellar-ataxia-syndrome
#12
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
https://read.qxmd.com/read/30606994/-cerebellar-ataxia-with-neuropathy-and-vestibular-areflexia-syndrome-canvas-a-case-report
#13
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...
January 30, 2019: Rinshō Shinkeigaku, Clinical Neurology
https://read.qxmd.com/read/30552638/what-is-behind-cerebellar-vertigo-and-dizziness
#14
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...
June 2019: Cerebellum
https://read.qxmd.com/read/29740388/central-lesions-with-selective-semicircular-canal-involvement-mimicking-bilateral-vestibulopathy
#15
REVIEW
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
https://read.qxmd.com/read/29696497/cerebellar-ataxia-neuropathy-vestibular-areflexia-syndrome-canvas-with-chronic-cough-and-preserved-muscle-stretch-reflexes-evidence-for-selective-sparing-of-afferent-ia-fibres
#16
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
https://read.qxmd.com/read/29628936/clinical-and-functional-characterization-of-a-missense-elf2-variant-in-a-canvas-family
#17
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
https://read.qxmd.com/read/29483893/mathematical-methods-for-measuring-the-visually-enhanced-vestibulo-ocular-reflex-and-preliminary-results-from-healthy-subjects-and-patient-groups
#18
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
https://read.qxmd.com/read/29474200/cerebellar-ataxia-with-neuropathy-and-vestibular-areflexia-syndrome-presenting-with-neurotrophic-keratopathy
#19
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
https://read.qxmd.com/read/29316033/peripheral-nerves-are-pathologically-small-in-cerebellar-ataxia-neuropathy-vestibular-areflexia-syndrome-a-controlled-ultrasound-study
#20
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
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