Case Study
Cerebellar Ataxia With Neuropathy and Bilateral Vestibular Areflexia Syndrome (CANVAS) in an Imbalance Patient
El síndrome de ataxia cerebelosa con neuropatía y arreflexia vestibular bilateral como explicación de una inestabilidad progresiva incapacitante
Jesús J. Benítez del Rosarioa,
, María Elvira Santandreu Jiménezb, Manuel Lousa Gayosoc
Corresponding author
a Servicio de Otorrinolaringología, Hospital General de Gran Canaria Dr. Negrín, Las Palmas de Gran Canaria, Spain
b Servicio de Rehabilitación, Hospital Universitario Insular de Gran Canaria, Las Palmas de Gran Canaria, Spain
c Servicio de Neurología, Hospital Universitario Insular de Gran Canaria, Las Palmas de Gran Canaria, Spain
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Benítez del Rosario, María Elvira Santandreu Jiménez, Manuel Lousa Gayoso" "autores" => array:3 [ 0 => array:4 [ "nombre" => "Jesús J." "apellidos" => "Benítez del Rosario" "email" => array:1 [ 0 => "jejabero@yahoo.es" ] "referencia" => array:2 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] 1 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">*</span>" "identificador" => "cor0005" ] ] ] 1 => array:3 [ "nombre" => "María Elvira" "apellidos" => "Santandreu Jiménez" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">b</span>" "identificador" => "aff0010" ] ] ] 2 => array:3 [ "nombre" => "Manuel" "apellidos" => "Lousa Gayoso" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">c</span>" "identificador" => "aff0015" ] ] ] ] "afiliaciones" => array:3 [ 0 => array:3 [ "entidad" => "Servicio de Otorrinolaringología, Hospital General de Gran Canaria Dr. Negrín, Las Palmas de Gran Canaria, Spain" "etiqueta" => "a" "identificador" => "aff0005" ] 1 => array:3 [ "entidad" => "Servicio de Rehabilitación, Hospital Universitario Insular de Gran Canaria, Las Palmas de Gran Canaria, Spain" "etiqueta" => "b" "identificador" => "aff0010" ] 2 => array:3 [ "entidad" => "Servicio de Neurología, Hospital Universitario Insular de Gran Canaria, Las Palmas de Gran Canaria, Spain" "etiqueta" => "c" "identificador" => "aff0015" ] ] "correspondencia" => array:1 [ 0 => array:3 [ "identificador" => "cor0005" "etiqueta" => "⁎" "correspondencia" => "Corresponding author." ] ] ] ] "titulosAlternativos" => array:1 [ "es" => array:1 [ "titulo" => "El síndrome de ataxia cerebelosa con neuropatía y arreflexia vestibular bilateral como explicación de una inestabilidad progresiva incapacitante" ] ] "resumenGrafico" => array:2 [ "original" => 0 "multimedia" => array:7 [ "identificador" => "fig0005" "etiqueta" => "Figure 1" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr1.jpeg" "Alto" => 799 "Ancho" => 1762 "Tamanyo" => 130407 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">Left: study of the vestibular ocular reflex with vHIT (Otometrics<span class="elsevierStyleSup">®</span>) which reveals low gains and the appearance of open and covert saccades. Right: disorder of slow and optokinetic tracking (Ullmer-Synapsis<span class="elsevierStyleSup">®</span>).</p>" ] ] ] "textoCompleto" => "<span class="elsevierStyleSections"><span id="sec0005" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0005">Clinical Case</span><p id="par0005" class="elsevierStylePara elsevierViewall">A woman of 63 years of age, with a history of high blood pressure, type 2 diabetes mellitus and hypothyroidism and no family history of cerebellar disease. Her gait started to become progressively unstable 5 years ago (at age 53) and she has required walking aids for 2 years and experiences difficulties with speaking. She does not report experiencing vertigo.</p><p id="par0010" class="elsevierStylePara elsevierViewall">At the time the diagnosis was made, the patient presented abolition of the visuo-vestibular ocular reflex with clear signs of “doll's eye” and tonal audiometry showed a curve suggestive of symmetrical presbycusis in line with the age of the patient.</p><p id="par0015" class="elsevierStylePara elsevierViewall">Complementary neuro-otological tests showed bilateral gain reduction on video-head impulse test (v-HIT) (Otometrics<span class="elsevierStyleSup">®</span>) (0.36 mean right gain, 0.27 mean left gain) with evident refixation saccades demonstrating bilateral vestibular loss (<a class="elsevierStyleCrossRef" href="#fig0005">Fig. 1</a>). The oculomotor study performed with Ulmer's video-nystagmography (Synapsis<span class="elsevierStyleSup">®</span>) showed alteration of slow and optokinetic tracking with preservation of saccadic movement (<a class="elsevierStyleCrossRef" href="#fig0005">Fig. 1</a>). A study using the posturographic NedSVE (IBV<span class="elsevierStyleSup">®</span>) system showed an overall PDC of 64%, a sensory organisation test of 36% with a mixed vestibular and somatosensory loss pattern and stability limits of 37%.</p><elsevierMultimedia ident="fig0005"></elsevierMultimedia><p id="par0020" class="elsevierStylePara elsevierViewall">The neurological study showed a heel-toe gait with widened base gait, bilateral heel-knee dismetry, scanning speech, cephalic tremor of negation, hypoaesthesia and distal areflexia in the lower limbs.</p><p id="par0025" class="elsevierStylePara elsevierViewall">Neurophysiologic study of the extremities showed a severe sensory axonal polyneuropathy predominating in the lower limbs with an absence of sensory evocated potentials.</p><p id="par0030" class="elsevierStylePara elsevierViewall">Radiological study with brain MRI revealed atrophy of the cerebellar vermis and both hemispheres (<a class="elsevierStyleCrossRef" href="#fig0010">Fig. 2</a>).</p><elsevierMultimedia ident="fig0010"></elsevierMultimedia><p id="par0035" class="elsevierStylePara elsevierViewall">Blood, biochemical, vitamin B12 and folic acid tests were normal, TSH: 7180 (0.340–5600); T4: 0.1 (0.60–1.60); HIV, Lues, <span class="elsevierStyleItalic">Borrellia</span> and <span class="elsevierStyleItalic">Brucella</span> negative, anti-amphiphysin antibodies, Hu, Yo, CV2, Ma2 negative. Molecular study of spinocerebellar ataxia (SCA) for SCA1, SCA 2, SCA 3, SCA 6, SAC 7 and DRPLA for Friedrich's ataxia were negative.</p></span><span id="sec0010" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0010">Discussion</span><p id="par0040" class="elsevierStylePara elsevierViewall">Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome has been newly described.<a class="elsevierStyleCrossRefs" href="#bib0005"><span class="elsevierStyleSup">1,2</span></a> Authors of English-speaking literature have proposed the name CANVAS which is the acronym for the description <span class="elsevierStyleItalic">Cerebellar Ataxia, Neuropathy and Vestibular Areflexia Syndrome.</span> This clinical picture can be distinguished from other forms of bilateral vestibulopathy with cerebellar atrophy which have been described since 1991.<a class="elsevierStyleCrossRef" href="#bib0015"><span class="elsevierStyleSup">3</span></a> The same group of authors<a class="elsevierStyleCrossRef" href="#bib0020"><span class="elsevierStyleSup">4</span></a> who describe the current syndrome, described a similar one (CABV <span class="elsevierStyleItalic">syndrome</span>) characterised by the absence of visuo-vestibular ocular reflex combined with cerebellar involvement, but their description at that time did not cover the association between vestibular areflexia-cerebellar ataxia and sensory neuropathy as a component of a differentiated clinical picture. The clinical picture is based on the doll's eye sign which represents the combination of the failure of the 3 compensatory systems of eye movement, i.e., a change in optokinetic reflex, in slow tracking and in vestibulo-ocular reflex. Added to this is the presence of idiopathic non-hereditary cerebellar ataxia which is clearly differentiated from other more aggressive forms (multiple system atrophy – cerebellar type or Creutzfeldt–Jakob disease)<a class="elsevierStyleCrossRef" href="#bib0025"><span class="elsevierStyleSup">5</span></a> and, finally, the existence of sensory axonal neuropathy with the absence of sensory action potentials.</p><p id="par0045" class="elsevierStylePara elsevierViewall">The clinical picture was described in 27 patients with equal gender distribution, of late onset (age range from 33 to 71) and a mean of 11 years evolution of the disease (3–38 years). The clinical characteristic in most patients is a lack of balance. This is the reason that the authors who describe the syndrome<a class="elsevierStyleCrossRefs" href="#bib0005"><span class="elsevierStyleSup">1,2</span></a> flag up that CANVAS should be suspected clinically in patients with a lack of balance due to severe ataxia and sensory axonal neuropathy with an absence of sensory action potentials. Other frequent signs among these patients are slow saccadic tracking, gaze-evoked nystagmus, ataxic gait, scanning speech and dismetry. The authors describing the syndrome suggest that this disease is a late-onset recessive disorder and, as described from post-mortem study of the temporal bone of one of these patients,<a class="elsevierStyleCrossRef" href="#bib0030"><span class="elsevierStyleSup">6</span></a> is characterised by a vestibular ganglionopathy, with a loss of Purkinje cells at cerebellar level and sensory neuronopathy. Rehabilitation treatment is not very effective due to the alteration of the 3 main balance control systems.</p></span></span>" "textoCompletoSecciones" => array:1 [ "secciones" => array:3 [ 0 => array:2 [ "identificador" => "sec0005" "titulo" => "Clinical Case" ] 1 => array:2 [ "identificador" => "sec0010" "titulo" => "Discussion" ] 2 => array:1 [ "titulo" => "References" ] ] ] "pdfFichero" => "main.pdf" "tienePdf" => true "fechaRecibido" => "2012-11-17" "fechaAceptado" => "2013-01-07" "NotaPie" => array:1 [ 0 => array:2 [ "etiqueta" => "☆" "nota" => "<p class="elsevierStyleNotepara" id="npar0005">Please cite this article as: Benítez del Rosario JJ, Santandreu Jiménez ME, Lousa Gayoso M. El síndrome de ataxia cerebelosa con neuropatía y arreflexia vestibular bilateral como explicación de una inestabilidad progresiva incapacitante. Acta Otorrinolaringol Esp. 2014;65:258–260.</p>" ] ] "multimedia" => array:2 [ 0 => array:7 [ "identificador" => "fig0005" "etiqueta" => "Figure 1" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr1.jpeg" "Alto" => 799 "Ancho" => 1762 "Tamanyo" => 130407 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">Left: study of the vestibular ocular reflex with vHIT (Otometrics<span class="elsevierStyleSup">®</span>) which reveals low gains and the appearance of open and covert saccades. Right: disorder of slow and optokinetic tracking (Ullmer-Synapsis<span class="elsevierStyleSup">®</span>).</p>" ] ] 1 => array:7 [ "identificador" => "fig0010" "etiqueta" => "Figure 2" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr2.jpeg" "Alto" => 668 "Ancho" => 1301 "Tamanyo" => 139951 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0010" class="elsevierStyleSimplePara elsevierViewall">Brain MRI showing cerebellar atrophy.</p>" ] ] ] "bibliografia" => array:2 [ "titulo" => "References" "seccion" => array:1 [ 0 => array:2 [ "identificador" => "bibs0005" "bibliografiaReferencia" => array:6 [ 0 => array:3 [ "identificador" => "bib0005" "etiqueta" => "1" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Sensory neuropathy as part of the cerebellar ataxia neuropathy vestibular areflexia syndrome" "autores" => array:1 [ 0 => array:2 [ "etal" => true "autores" => array:6 [ 0 => "D.J. Szmulewicz" 1 => "J.A. Waterston" 2 => "G.M. Halmagyi" 3 => "S. Mossman" 4 => "A.M. Chancellor" 5 => "C.A. McLean" ] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1212/WNL.0b013e31821d746e" "Revista" => array:6 [ "tituloSerie" => "Neurology" "fecha" => "2011" "volumen" => "76" "paginaInicial" => "1903" "paginaFinal" => "1910" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/21624989" "web" => "Medline" ] ] ] ] ] ] ] ] 1 => array:3 [ "identificador" => "bib0010" "etiqueta" => "2" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS): a review of the clinical features and video-oculographic diagnosis" "autores" => array:1 [ 0 => array:2 [ "etal" => true "autores" => array:6 [ 0 => "D.J. Szmulewicz" 1 => "J.A. Waterston" 2 => "H.G. MacDougall" 3 => "S. Mossman" 4 => "A.M. Chancellor" 5 => "C.A. 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| Year/Month | Html | Total | |
|---|---|---|---|
| 2023 March | 4 | 0 | 4 |
| 2022 December | 1 | 0 | 1 |
| 2021 October | 1 | 2 | 3 |
| 2021 July | 2 | 0 | 2 |
| 2021 March | 0 | 10 | 10 |
| 2021 January | 0 | 3 | 3 |
| 2020 December | 0 | 3 | 3 |
| 2020 November | 0 | 4 | 4 |
| 2020 October | 0 | 2 | 2 |
| 2020 September | 0 | 2 | 2 |
| 2020 August | 0 | 2 | 2 |
| 2020 July | 0 | 1 | 1 |
| 2020 March | 28 | 7 | 35 |
| 2020 February | 89 | 15 | 104 |
| 2020 January | 57 | 18 | 75 |
| 2019 December | 63 | 18 | 81 |
| 2019 November | 44 | 23 | 67 |
| 2019 October | 70 | 11 | 81 |
| 2019 September | 50 | 5 | 55 |
| 2019 August | 36 | 10 | 46 |
| 2019 July | 43 | 14 | 57 |
| 2019 June | 102 | 19 | 121 |
| 2019 May | 259 | 74 | 333 |
| 2019 April | 105 | 48 | 153 |
| 2019 March | 26 | 11 | 37 |
| 2019 February | 34 | 13 | 47 |
| 2019 January | 30 | 18 | 48 |
| 2018 December | 15 | 13 | 28 |
| 2018 November | 29 | 3 | 32 |
| 2018 October | 15 | 5 | 20 |
| 2018 May | 0 | 2 | 2 |
| 2018 April | 8 | 7 | 15 |
| 2018 March | 11 | 14 | 25 |
| 2018 February | 11 | 9 | 20 |
| 2018 January | 9 | 8 | 17 |
| 2017 December | 11 | 9 | 20 |
| 2017 November | 12 | 7 | 19 |
| 2017 October | 13 | 11 | 24 |
| 2017 September | 13 | 7 | 20 |
| 2017 August | 23 | 19 | 42 |
| 2017 July | 28 | 11 | 39 |
| 2017 June | 24 | 19 | 43 |
| 2017 May | 39 | 18 | 57 |
| 2017 April | 14 | 10 | 24 |
| 2017 March | 26 | 23 | 49 |
| 2017 February | 31 | 10 | 41 |
| 2017 January | 59 | 7 | 66 |
| 2016 December | 55 | 11 | 66 |
| 2016 November | 38 | 8 | 46 |
| 2016 October | 65 | 17 | 82 |
| 2016 September | 66 | 6 | 72 |
| 2016 August | 39 | 9 | 48 |
| 2016 July | 20 | 4 | 24 |
| 2016 June | 50 | 24 | 74 |
| 2016 May | 43 | 23 | 66 |
| 2016 April | 58 | 24 | 82 |
| 2016 March | 52 | 26 | 78 |
| 2016 February | 39 | 25 | 64 |
| 2016 January | 39 | 26 | 65 |
| 2015 December | 40 | 21 | 61 |
| 2015 November | 35 | 17 | 52 |
| 2015 October | 66 | 21 | 87 |
| 2015 September | 45 | 51 | 96 |
| 2015 August | 70 | 15 | 85 |
| 2015 July | 74 | 27 | 101 |
| 2015 June | 29 | 11 | 40 |
| 2015 May | 31 | 11 | 42 |
| 2015 April | 65 | 17 | 82 |
| 2015 March | 39 | 32 | 71 |
| 2015 February | 25 | 17 | 42 |
| 2015 January | 40 | 17 | 57 |
| 2014 December | 36 | 22 | 58 |
| 2014 November | 35 | 16 | 51 |
| 2014 October | 57 | 24 | 81 |
| 2014 September | 46 | 15 | 61 |
| 2014 August | 9 | 3 | 12 |
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