keyword
Keywords Cerebellar ataxia, neuropathy,...

Cerebellar ataxia, neuropathy, vestibular areflexia syndrome

https://read.qxmd.com/read/36380583/updates-in-neuro-otology
#1
JOURNAL ARTICLE
Olwen C Murphy, Nicholas E F Hac, Daniel R Gold
PURPOSE OF REVIEW: Recent updates with clinical implications in the field of neuro-otology are reviewed. RECENT FINDINGS: Important updates relating to several neuro-otologic disorders have been reported in recent years. For benign positional paroxysmal vertigo (BPPV), we provide updates on the characteristics and features of the short arm variant of posterior canal BPPV. For the acute vestibular syndrome, we report important updates on the use of video-oculography in clinical diagnosis...
November 16, 2022: Current Opinion in Neurology
https://read.qxmd.com/read/36354069/ultrasound-of-peripheral-nerves-distinguishes-inherited-sensory-neuronopathy-of-cerebellar-ataxia-with-neuropathy-and-vestibular-areflexia-syndrome-canvas-from-inherited-axonopathy
#2
JOURNAL ARTICLE
Luciana Pelosi, Daniele Coraci, Eoin Mulroy, Ruth Leadbetter, Luca Padua, Richard Roxburgh
UNLABELLED: Ultrasound of peripheral nerves distinguishes inherited sensory neuronopathy of cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS) from inherited axonopathy INTRODUCTION/AIM: Recent studies have shown that ultrasound of peripheral nerves can distinguish inherited sensory neuronopathy from acquired axonopathy with a high degree of accuracy. In this study we aimed to see whether ultrasound can also distinguish inherited sensory neuronopathy from inherited axonopathy...
November 10, 2022: Muscle & Nerve
https://read.qxmd.com/read/36343934/-motor-neuron-involvement-in-rfc1-canvas-spectrum-disorders
#3
JOURNAL ARTICLE
Yosuke Miyaji, Hiroshi Doi, Fumiaki Tanaka
Cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS) is characterized by the triad of cerebellar ataxia, bilateral vestibular impairment, and sensory neuropathy. The responsible anatomical region for the sensory disturbance in CANVAS is reportedly the dorsal root ganglion, which suggests neuronopathy rather than neuropathy as the pathomechanism of this peripheral nervous system disorder. Early on, motor neuron involvement was considered rare in CANVAS. The etiology of CANVAS includes the homozygous pentanucleotide repeat expansion within the RFC1 gene, resulting in diverse phenotypes and motor deficits such as brisk reflex, extensor plantar responses, or spasticity of the upper motor neurons and muscle wasting, weakness, cramp, or fasciculation of the lower motor neurons...
November 2022: Brain and Nerve, Shinkei Kenkyū No Shinpo
https://read.qxmd.com/read/36343933/-peripheral-neuropathy-in-rfc1-canvas-spectrum-disorders
#4
REVIEW
Yusuke Osaki, Yuishin Izumi
Recently, the biallelic expansion of an AAGGG repeat in RFC1 was reported as a cause of cerebellar ataxia with neuropathy and vestibular areflexia syndrome. This mutation has also been reported in more selected nervous disorders, including pure sensory axonal polyneuropathy. Thus, the multisystem disorders caused by this mutation are now considered RFC1-related spectrum disorders. Here, we review the previous reports about RFC1-related spectrum disorders from the aspect of neuropathy.
November 2022: Brain and Nerve, Shinkei Kenkyū No Shinpo
https://read.qxmd.com/read/36343931/-chronic-cough-in-canvas
#5
JOURNAL ARTICLE
Hiroshi Doi, Fumiaki Tanaka
Among patients with RFC1 spectrum disorders represented by the phenotype of cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS), at least 60% are known to manifest chronic, paroxysmal, and spasmodic dry cough. Chronic cough is a key diagnostic feature of RFC1-related diseases. It is often the first symptom and, in some cases, precedes neurological symptoms such as ataxia and sensory disturbance for more than 30 years. Although the pathogenesis of the cough remains unclear, it is possible that impairment of the vagus nerve, which includes an afferent pathway of the cough reflex, or the cerebellum would have contributed to the generation of the cough...
November 2022: Brain and Nerve, Shinkei Kenkyū No Shinpo
https://read.qxmd.com/read/36343930/-vestibular-dysfunction-in-replication-factor-c-subunit-1-rfc1-spectrum-disorder
#6
JOURNAL ARTICLE
Mitsuhiro Aoki, Kyoko Maruta, Muhamad Asem Almansour
More than 90% of replication factor c subunit 1 (RFC1) gene-related spectrum disorders such as cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS) have bilateral vestibular dysfunction. A case with CANVAS presented in this paper showed repeat extension of AAGGG in the intron region of the RFC1 gene, and showed bilateral vestibular dysfunction in caloric test, vestibular evoked myogenic potential, video Head Impulse Test and rotary chair test. Visual enhanced vestibulo-ocular reflex tests also revealed abnormalities, suggesting the presence of combined lesions of the cerebellum and brainstem including vestibular nuclei...
November 2022: Brain and Nerve, Shinkei Kenkyū No Shinpo
https://read.qxmd.com/read/36343929/-neuropathological-findings-in-cerebellar-ataxia-with-neuropathy-and-vestibular-areflexia-syndrome
#7
JOURNAL ARTICLE
Mitsunori Yamada
Cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS) is characterized by neuropathological changes such as loss of Purkinje cells and degeneration of the posterior column of the spinal cord. In the peripheral nervous system, CANVAS is associated with loss of ganglion cells in the dorsal root and vestibular ganglia. Some patients may show degeneration of the inferior olivary nucleus, corticospinal tracts, and the facial and trigeminal ganglia. Further research is warranted to determine whether differences in lesion distribution are attributable to differences in genetic abnormalities and their combinations...
November 2022: Brain and Nerve, Shinkei Kenkyū No Shinpo
https://read.qxmd.com/read/36343928/-rfc1-gene-function-and-intronic-repeat-expansion-causing-cerebellar-ataxia-with-neuropathy-and-vestibular-areflexia-syndrome
#8
JOURNAL ARTICLE
Satoko Miyatake, Naomichi Matsumoto
Biallelic intronic repeat expansion in the RFC1 gene was reported as a cause of cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS). Its clinical features include late-onset cerebellar ataxia, sensory neuropathy (or neuronopathy), bilateral vestibular impairment, autonomic dysfunction, chronic cough, pyramidal sign, or parkinsonism. Repeat conformations heterogeneity is observed along with the possible phenotype-genotype correlation while its molecular pathogenesis remains uncovered...
November 2022: Brain and Nerve, Shinkei Kenkyū No Shinpo
https://read.qxmd.com/read/36343927/-rfc1-canvas-spectrum-disorder-historical-details-and-clinical-diversity
#9
JOURNAL ARTICLE
Kunihiro Yoshida
Cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS) refers to a multi-system neurodegenerative disorder, with middle-age onset, which mainly presents with progressive imbalance. Imbalance is attributable to isolated or combined impairment of the cerebellar, proprioceptive, and vestibular systems. Chronic spasmodic cough, which usually precedes neurological symptoms, serves as a useful diagnostic clue to CANVAS. Diagnostic criteria have been proposed for CANVAS in 2016, based on 3 cardinal features...
November 2022: Brain and Nerve, Shinkei Kenkyū No Shinpo
https://read.qxmd.com/read/36289003/truncating-variants-in-rfc1-in-cerebellar-ataxia-neuropathy-and-vestibular-areflexia-syndrome
#10
JOURNAL ARTICLE
Riccardo Ronco, Cecilia Perini, Riccardo Currò, Natalia Dominik, Stefano Facchini, Alice Gennari, Roberto Simone, Skye Stuart, Sara Nagy, Elisa Vegezzi, Ilaria Quartesan, Amar El-Saddig, Timothy Lavin, Arianna Tucci, Agnieszka Szymura, Luiz Eduardo Novis De Farias, Alexander Gary, Megan Delfeld, Priscilla Kandikatla, Nifang Niu, Sanjukta Tawde, Joseph Shaw, James Polke, Mary M Reilly, Nick W Wood, Emmanuele Crespan, Christopher Gomez, Jin Yun Helen Chen, Jeremy Dan Schmahmann, David Gosal, Henry Houlden, Soma Das, Andrea Cortese
INTRODUCTION: Cerebellar Ataxia, Neuropathy and Vestibular Areflexia Syndrome (CANVAS) is an autosomal recessive neurodegenerative disease characterized by adult onset and slowly progressive sensory neuropathy, cerebellar dysfunction, and vestibular impairment. In most cases, the disease is caused by biallelic (AAGGG)n repeat expansions in the second intron of the Replication Factor Complex subunit 1 ( RFC1 ). However, a small number of cases with typical CANVAS do not carry the common biallelic repeat expansion...
October 26, 2022: Neurology
https://read.qxmd.com/read/36250766/new-cerebellar-ataxia-neuropathy-vestibular-areflexia-syndrome-cases-are-caused-by-the-presence-of-a-nonsense-variant-in-compound-heterozygosity-with-the-pathogenic-repeat-expansion-in-the-rfc1-gene
#11
JOURNAL ARTICLE
Ana Arteche-López, Almudena Avila-Fernandez, Alejandra Damian, Emma Soengas-Gonda, Rubén Pérez de la Fuente, Patricia Ramos Gómez, Jesús Gallego Merlo, Laura Horcajada Burgos, Carlos Cemillán Fernández, Jose Miguel Lezana Rosales, Juan Francisco González Martínez, Juan Francisco Quesada-Espinosa, Marta Corton, Maria Paz Guerrero-Molina
The biallelic pathogenic repeat (AAGGG)400-2000 intronic expansion in the RFC1 gene has been recently described as the cause of cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS) and as a major cause of late-onset ataxia. Since then, many heterozygous carriers have been identified, with an estimated allele frequency of 0.7% to 4% in the healthy population. Here, we describe in two affected CANVAS sisters the presence of the nonsense c.724C > T p.(Arg242*) variant in compound heterozygosity with the pathogenic repeat expansion in the RFC1 gene...
October 17, 2022: Clinical Genetics
https://read.qxmd.com/read/36177974/severe-distinct-dysautonomia-in-rfc1-related-disease-associated-with-parkinsonism
#12
Christopher J Record, Rana Alnasser Alsukhni, Riccardo Curro, Diego Kaski, John S Rubin, Huw R Morris, Andrea Cortese, Valeria Iodice, Mary M Reilly
BACKGROUND: Biallelic repeat expansions in RFC1 have recently been found to cause cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS). Additional features that have been described include Parkinsonism and a multiple system atrophy (MSA)-like syndrome. CANVAS can include features of dysautonomia, but they are much milder than typically seen in MSA. METHODS: We report a detailed autonomic phenotype of multisystem RFC1-related disease presenting initially as CANVAS...
September 30, 2022: Journal of the Peripheral Nervous System: JPNS
https://read.qxmd.com/read/36088850/cognitive-impairment-is-not-uncommon-in-patients-with-biallelic-rfc1-aaggg-repeat-expansion-but-the-expansion-is-rare-in-patients-with-cognitive-disease
#13
JOURNAL ARTICLE
Anita Korpioja, Johanna Krüger, Anri Hurme-Niiranen, Eino Solje, Kasper Katisko, Joonas Lipponen, Maria Lehtilahti, Anne M Remes, Kari Majamaa, Laura Kytövuori
INTRODUCTION: The biallelic repeat expansion (AAGGG)<sub>exp</sub> in RFC1 causes cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS). Recently, cognitive impairment has been reported in patients with CANVAS and a broader neurodegenerative process associated with RFC1 has been suggested. Furthermore, rare cases of multiple system atrophy, Parkinson's disease, amyotrophic lateral sclerosis or CANVAS with features of dementia with Lewy bodies have been found...
October 2022: Parkinsonism & related Disorders
https://read.qxmd.com/read/36046423/-rfc1-related-disease-molecular-and-clinical-insights
#14
JOURNAL ARTICLE
Kayli Davies, David J Szmulewicz, Louise A Corben, Martin Delatycki, Paul J Lockhart
In 2019, a biallelic pentanucleotide repeat expansion in the gene encoding replication factor C subunit 1 ( RFC1 ) was reported as a cause of cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS). In addition, biallelic expansions were shown to account for up to 22% of cases with late-onset ataxia. Since this discovery, the phenotypic spectrum reported to be associated with RFC1 expansions has extended beyond the initial conditions to include pure cerebellar ataxia, isolated somatosensory impairment, combinations of the 2, and parkinsonism, leading to a potentially broad differential diagnosis...
October 2022: Neurology. Genetics
https://read.qxmd.com/read/36034314/genetic-and-clinical-features-of-cerebellar-ataxia-with-rfc1-biallelic-repeat-expansions-in-japan
#15
JOURNAL ARTICLE
Masahiro Ando, Yujiro Higuchi, Junhui H Yuan, Akiko Yoshimura, Shuntaro Higashi, Mika Takeuchi, Takahiro Hobara, Fumikazu Kojima, Yutaka Noguchi, Jun Takei, Yu Hiramatsu, Satoshi Nozuma, Yusuke Sakiyama, Akihiro Hashiguchi, Eiji Matsuura, Yuji Okamoto, Masahiro Nagai, Hiroshi Takashima
The recessive intronic pentanucleotide repeat AAGGG expansion of replication factor complex subunit 1 ( RFC1 ) is associated with cerebellar ataxia, sensory neuropathy, and vestibular areflexia syndrome. And the clinical spectrum has been continuously expanding. We conducted this study to demonstrate the clinical and genetic features of a large-scale case series of Japanese patients with cerebellar ataxia with RFC1 repeat expansions. We examined 1,289 Japanese patients with cerebellar ataxia and analyzed RFC1 repeat expansions in 840 patients, excluding those with genetic diagnoses or an autosomal dominant inheritance pattern...
2022: Frontiers in Neurology
https://read.qxmd.com/read/36009593/early-diagnosis-in-cerebellar-ataxia-neuropathy-vestibular-areflexia-syndrome-canvas-by-focusing-on-major-clinical-clues-beyond-ataxia-and-vestibular-impairment
#16
JOURNAL ARTICLE
Laurent Magy, Pauline Chazelas, Laurence Richard, Nathalie Deschamps, Simon Frachet, Jean-Michel Vallat, Corinne Magdelaine, Frédéric Favreau, Flavien Bessaguet, Anne-Sophie Lia, Mathilde Duchesne
CANVAS, a rare disorder responsible for late-onset ataxia of autosomal recessive inheritance, can be misdiagnosed. We investigated a series of eight patients with sensory neuropathy and/or an unexplained cough, who appeared to suffer from CANVAS, and we emphasized the clinical clues for early diagnosis. Investigations included clinical and routine laboratory analyses, skin biopsy, nerve biopsy and molecular genetics. The eight patients had clinical and/or laboratory evidence of sensory neuronopathy. All but one had neuropathic pain that had started in an asymmetric fashion in two patients...
August 22, 2022: Biomedicines
https://read.qxmd.com/read/35950727/sensory-neuronopathies-diagnostic-criteria-and-causes
#17
REVIEW
Jean-Christophe Antoine
PURPOSE OF REVIEW: To stress on the diagnostic strategy of sensory neuronopathies (SNN), including new genes and antibodies. RECENT FINDING: SNN involve paraneoplastic, dysimmune, toxic, viral and genetic mechanisms. About one-third remains idiopathic. Recently, new antibodies and genes have reduced this proportion. Anti-FGFR3 and anti-AGO antibodies are not specific of SNN, although SNN is predominant and may occur with systemic autoimmune diseases. These antibodies are the only marker of an underlying dysimmune context in two-thirds (anti-FGFR3 antibodies) and one-third of the cases (anti-AGO antibodies), respectively...
October 1, 2022: Current Opinion in Neurology
https://read.qxmd.com/read/35883251/rfc1-nonsense-and-frameshift-variants-cause-canvas-clues-for-an-unsolved-pathophysiology
#18
JOURNAL ARTICLE
Mehdi Benkirane, Dylan Da Cunha, Cecilia Marelli, Lise Larrieu, Mathilde Renaud, Jessica Varilh, Morgane Pointaux, David Baux, Olivier Ardouin, Charles Vangoethem, Magali Taulan, Benjamin Daumas Duport, Anne Bergougnoux, Anne Gaelle Corbillé, Mireille Cossée, Raul Juntas Morales, Sylvie Tuffery-Giraud, Michel Koenig, Bertrand Isidor, Marie Claire Vincent
Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS) is an inherited late-onset neurological disease caused by bi-allelic AAGGG pentanucleotide expansions within intron 2 of RFC1. Despite extensive studies, the pathophysiological mechanism of these intronic expansions remains elusive. We screened by clinical exome sequencing two unrelated patients presenting with late onset ataxia. Repeat Primer-PCR was used for RFC1 AAGGG intronic expansion identification. RFC1 mRNA expression was assessed by quantitative reverse transcription PCR We identified the first two CANVAS affected patient who are compound heterozygous for a RFC1 truncating variants (p...
July 27, 2022: Brain
https://read.qxmd.com/read/35633373/screening-for-rfc-1-pathological-expansion-in-late-onset-ataxias-a-contribution-to-the-differential-diagnosis
#19
JOURNAL ARTICLE
Melissa Barghigiani, Giovanna De Michele, Alessandra Tessa, Tommasina Fico, Gemma Natale, Francesco Saccà, Chiara Pane, Nunzia Cuomo, Anna De Rosa, Sabina Pappatà, Giuseppe De Michele, Filippo M Santorelli, Alessandro Filla
We screened 62 late-onset ataxia patients for the AAGGG pathological expansion in the RFC-1 gene that, when biallelic, causes Cerebellar Ataxia, Neuropathy, Vestibular Areflexia Syndrome (CANVAS). Nine patients tested positive. Six had a previous diagnosis of sporadic adult-onset ataxia (SAOA) and three of multisystem atrophy type C (MSA-C). Further six patients were heterozygous for the pathological RFC-1 expansion, four with an initial diagnosis of MSA-C and two of SAOA. In comparison with CANVAS, MSA-C patients had faster progression and shorter disease duration to walking with aids...
October 2022: Journal of Neurology
https://read.qxmd.com/read/35585435/beyond-canvas-behavioral-onset-of-rfc1-expansion-disease-in-an-italian-family-causal-or-casual
#20
JOURNAL ARTICLE
Fabiana Colucci, Daniela Di Bella, Chiara Pisciotta, Elisa Sarto, Francesca Gualandi, Marcella Neri, Alessandra Ferlini, Elena Contaldi, Maura Pugliatti, Davide Pareyson, Mariachiara Sensi
INTRODUCTION: Biallelic intronic AAGGG repeat expansion in the replication factor C subunit 1 (RFC1) gene was recently identified in two/third of patients with cerebellar ataxia, sensory neuropathy, and bilateral vestibular areflexia syndrome (CANVAS). The phenotypic spectrum has expanded since (i.e., parkinsonism, motor neuron involvement, cognitive decline); no behavioral symptoms have been reported yet. CASE REPORT: We report an Italian family that met the diagnostic criteria for CANVAS, and RFC1-expansion was detected in five of seven...
August 2022: Neurological Sciences
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