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Speech, Gait, and Vestibular Function in Cerebellar Ataxia with Neuropathy and Vestibular Areflexia Syndrome

(1) Background: Cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS) is characterized by late-onset cerebellar ataxia, bilateral vestibulopathy, and sensory neuronopathy mostly due to biallelic RFC1 expansion. (2) Objectives: The aim of this case series is to describe vestibu...

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Autores principales: Di Rauso, Giulia, Castellucci, Andrea, Cavallieri, Francesco, Tozzi, Andrea, Fioravanti, Valentina, Monfrini, Edoardo, Gessani, Annalisa, Rossi, Jessica, Campanini, Isabella, Merlo, Andrea, Ronchi, Dario, Napoli, Manuela, Pascarella, Rosario, Grisanti, Sara, Ferrulli, Giuseppe, Sabadini, Rossella, Di Fonzo, Alessio, Ghidini, Angelo, Valzania, Franco
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10605709/
https://www.ncbi.nlm.nih.gov/pubmed/37891834
http://dx.doi.org/10.3390/brainsci13101467
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author Di Rauso, Giulia
Castellucci, Andrea
Cavallieri, Francesco
Tozzi, Andrea
Fioravanti, Valentina
Monfrini, Edoardo
Gessani, Annalisa
Rossi, Jessica
Campanini, Isabella
Merlo, Andrea
Ronchi, Dario
Napoli, Manuela
Pascarella, Rosario
Grisanti, Sara
Ferrulli, Giuseppe
Sabadini, Rossella
Di Fonzo, Alessio
Ghidini, Angelo
Valzania, Franco
author_facet Di Rauso, Giulia
Castellucci, Andrea
Cavallieri, Francesco
Tozzi, Andrea
Fioravanti, Valentina
Monfrini, Edoardo
Gessani, Annalisa
Rossi, Jessica
Campanini, Isabella
Merlo, Andrea
Ronchi, Dario
Napoli, Manuela
Pascarella, Rosario
Grisanti, Sara
Ferrulli, Giuseppe
Sabadini, Rossella
Di Fonzo, Alessio
Ghidini, Angelo
Valzania, Franco
author_sort Di Rauso, Giulia
collection PubMed
description (1) Background: Cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS) is characterized by late-onset cerebellar ataxia, bilateral vestibulopathy, and sensory neuronopathy mostly due to biallelic RFC1 expansion. (2) Objectives: The aim of this case series is to describe vestibular, gait, and speech alterations in CANVAS via a systematic approach. (3) Methods: All patients (n = 5) underwent a standardized clinical–instrumental examination, including the perceptual and acoustic analysis of speech, instrumental gait, and balance analysis (posturographic data were acquired using a force plate [Kistler, Winterthur, Switzerland] while 3D gait analysis, inclusive of surface electromyography, was acquired using a motion capture system [SMART DX, BTS Bioengineering, Milan, Italy], a wireless electromyograph [FreeEMG, BTS Bioengineering, Milan, Italy]), and vestibular assessment with video-oculography. (4) Results: Five patients were included in the analysis: three females (patients A, B, C) and two males (patients D and E) with a mean age at evaluation of 62 years (SD ± 15.16, range 36–74). The mean age of symptoms’ onset was 55.6 years (SD ± 15.04, range 30–68), and patients were clinically and instrumentally evaluated with a mean disease duration of 6.4 years (SD ± 0.54, range 6–7). Video-Frenzel examination documented spontaneous downbeat nystagmus enhanced on bilateral gaze in all patients, except for one presenting with slight downbeat nystagmus in the supine position. All patients exhibited different degrees of symmetrically reduced VOR gain for allsix semicircular canals on the video-head impulse test and an unexpectedly normal (“false negative”) VOR suppression, consistent with combined cerebellar dysfunction and bilateral vestibular loss. Posturographic indices were outside their age-matched normative ranges in all patients, while 3D gait analysis highlighted a reduction in ankle dorsiflexion (limited forward rotation of the tibia over the stance foot during the stance phase of gait and fatigue of the dorsiflexor muscles) and variable out-of-phase activity of plantar flexors during the swing phase. Finally, perceptual-acoustic evaluation of speech showed ataxic dysarthria in three patients. Dysdiadochokinesis, rhythm instability, and irregularity were observed in the oral diadochokinesis task. (5) Conclusions: CANVAS is a recently discovered syndrome that is gaining more and more relevance within late-onset ataxias. In this paper, we aimed to contribute to a detailed description of its phenotype.
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spelling pubmed-106057092023-10-28 Speech, Gait, and Vestibular Function in Cerebellar Ataxia with Neuropathy and Vestibular Areflexia Syndrome Di Rauso, Giulia Castellucci, Andrea Cavallieri, Francesco Tozzi, Andrea Fioravanti, Valentina Monfrini, Edoardo Gessani, Annalisa Rossi, Jessica Campanini, Isabella Merlo, Andrea Ronchi, Dario Napoli, Manuela Pascarella, Rosario Grisanti, Sara Ferrulli, Giuseppe Sabadini, Rossella Di Fonzo, Alessio Ghidini, Angelo Valzania, Franco Brain Sci Article (1) Background: Cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS) is characterized by late-onset cerebellar ataxia, bilateral vestibulopathy, and sensory neuronopathy mostly due to biallelic RFC1 expansion. (2) Objectives: The aim of this case series is to describe vestibular, gait, and speech alterations in CANVAS via a systematic approach. (3) Methods: All patients (n = 5) underwent a standardized clinical–instrumental examination, including the perceptual and acoustic analysis of speech, instrumental gait, and balance analysis (posturographic data were acquired using a force plate [Kistler, Winterthur, Switzerland] while 3D gait analysis, inclusive of surface electromyography, was acquired using a motion capture system [SMART DX, BTS Bioengineering, Milan, Italy], a wireless electromyograph [FreeEMG, BTS Bioengineering, Milan, Italy]), and vestibular assessment with video-oculography. (4) Results: Five patients were included in the analysis: three females (patients A, B, C) and two males (patients D and E) with a mean age at evaluation of 62 years (SD ± 15.16, range 36–74). The mean age of symptoms’ onset was 55.6 years (SD ± 15.04, range 30–68), and patients were clinically and instrumentally evaluated with a mean disease duration of 6.4 years (SD ± 0.54, range 6–7). Video-Frenzel examination documented spontaneous downbeat nystagmus enhanced on bilateral gaze in all patients, except for one presenting with slight downbeat nystagmus in the supine position. All patients exhibited different degrees of symmetrically reduced VOR gain for allsix semicircular canals on the video-head impulse test and an unexpectedly normal (“false negative”) VOR suppression, consistent with combined cerebellar dysfunction and bilateral vestibular loss. Posturographic indices were outside their age-matched normative ranges in all patients, while 3D gait analysis highlighted a reduction in ankle dorsiflexion (limited forward rotation of the tibia over the stance foot during the stance phase of gait and fatigue of the dorsiflexor muscles) and variable out-of-phase activity of plantar flexors during the swing phase. Finally, perceptual-acoustic evaluation of speech showed ataxic dysarthria in three patients. Dysdiadochokinesis, rhythm instability, and irregularity were observed in the oral diadochokinesis task. (5) Conclusions: CANVAS is a recently discovered syndrome that is gaining more and more relevance within late-onset ataxias. In this paper, we aimed to contribute to a detailed description of its phenotype. MDPI 2023-10-17 /pmc/articles/PMC10605709/ /pubmed/37891834 http://dx.doi.org/10.3390/brainsci13101467 Text en © 2023 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
Di Rauso, Giulia
Castellucci, Andrea
Cavallieri, Francesco
Tozzi, Andrea
Fioravanti, Valentina
Monfrini, Edoardo
Gessani, Annalisa
Rossi, Jessica
Campanini, Isabella
Merlo, Andrea
Ronchi, Dario
Napoli, Manuela
Pascarella, Rosario
Grisanti, Sara
Ferrulli, Giuseppe
Sabadini, Rossella
Di Fonzo, Alessio
Ghidini, Angelo
Valzania, Franco
Speech, Gait, and Vestibular Function in Cerebellar Ataxia with Neuropathy and Vestibular Areflexia Syndrome
title Speech, Gait, and Vestibular Function in Cerebellar Ataxia with Neuropathy and Vestibular Areflexia Syndrome
title_full Speech, Gait, and Vestibular Function in Cerebellar Ataxia with Neuropathy and Vestibular Areflexia Syndrome
title_fullStr Speech, Gait, and Vestibular Function in Cerebellar Ataxia with Neuropathy and Vestibular Areflexia Syndrome
title_full_unstemmed Speech, Gait, and Vestibular Function in Cerebellar Ataxia with Neuropathy and Vestibular Areflexia Syndrome
title_short Speech, Gait, and Vestibular Function in Cerebellar Ataxia with Neuropathy and Vestibular Areflexia Syndrome
title_sort speech, gait, and vestibular function in cerebellar ataxia with neuropathy and vestibular areflexia syndrome
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10605709/
https://www.ncbi.nlm.nih.gov/pubmed/37891834
http://dx.doi.org/10.3390/brainsci13101467
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