ArticleNeurology. Clinical practice2024
Vestibular Hypofunction in ARSACS Syndrome: A Possible Pitfall in the Differential Diagnosis of Recessive Cerebellar and Afferent Ataxias.
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15 authors at 1 institution in 2 countries.
Giacomo ArgenzianoNeurology Unit (GA, GDR), Department of Biomedical, Metabolic and Neural Science, University of Modena and Reggio Emilia, Modena; Neurology Unit (GA, FC, VF, GDR, JR, GT, CZ, FV), Neuromotor and Rehabilitation Department; Otolaryngology Unit (AC, A. Ghidini), Azienda USL-IRCCS di Reggio Emilia; Neurology (A. Gessani), Neuroscience Head Neck Department, Azienda Ospedaliero-Universitaria di Modena; LAM-Motion Analysis Laboratory (IC, AM), Neuromotor and Rehabilitation Department; Neuroradiology Unit (MN), Azienda USL-IRCCS di Reggio Emilia; and Clinical and Experimental Medicine PhD Program (SG, JR), University of Modena and Reggio Emilia, Italy.ORCID https://orcid.org/0000-0002-4491-7318
Francesco CavallieriNeurology Unit (GA, GDR), Department of Biomedical, Metabolic and Neural Science, University of Modena and Reggio Emilia, Modena; Neurology Unit (GA, FC, VF, GDR, JR, GT, CZ, FV), Neuromotor and Rehabilitation Department; Otolaryngology Unit (AC, A. Ghidini), Azienda USL-IRCCS di Reggio Emilia; Neurology (A. Gessani), Neuroscience Head Neck Department, Azienda Ospedaliero-Universitaria di Modena; LAM-Motion Analysis Laboratory (IC, AM), Neuromotor and Rehabilitation Department; Neuroradiology Unit (MN), Azienda USL-IRCCS di Reggio Emilia; and Clinical and Experimental Medicine PhD Program (SG, JR), University of Modena and Reggio Emilia, Italy.ORCID https://orcid.org/0000-0001-5836-1982
Andrea CastellucciNeurology Unit (GA, GDR), Department of Biomedical, Metabolic and Neural Science, University of Modena and Reggio Emilia, Modena; Neurology Unit (GA, FC, VF, GDR, JR, GT, CZ, FV), Neuromotor and Rehabilitation Department; Otolaryngology Unit (AC, A. Ghidini), Azienda USL-IRCCS di Reggio Emilia; Neurology (A. Gessani), Neuroscience Head Neck Department, Azienda Ospedaliero-Universitaria di Modena; LAM-Motion Analysis Laboratory (IC, AM), Neuromotor and Rehabilitation Department; Neuroradiology Unit (MN), Azienda USL-IRCCS di Reggio Emilia; and Clinical and Experimental Medicine PhD Program (SG, JR), University of Modena and Reggio Emilia, Italy.ORCID https://orcid.org/0000-0003-2874-5672
Valentina FioravantiNeurology Unit (GA, GDR), Department of Biomedical, Metabolic and Neural Science, University of Modena and Reggio Emilia, Modena; Neurology Unit (GA, FC, VF, GDR, JR, GT, CZ, FV), Neuromotor and Rehabilitation Department; Otolaryngology Unit (AC, A. Ghidini), Azienda USL-IRCCS di Reggio Emilia; Neurology (A. Gessani), Neuroscience Head Neck Department, Azienda Ospedaliero-Universitaria di Modena; LAM-Motion Analysis Laboratory (IC, AM), Neuromotor and Rehabilitation Department; Neuroradiology Unit (MN), Azienda USL-IRCCS di Reggio Emilia; and Clinical and Experimental Medicine PhD Program (SG, JR), University of Modena and Reggio Emilia, Italy.ORCID https://orcid.org/0009-0003-4631-8591
Giulia Di RausoNeurology Unit (GA, GDR), Department of Biomedical, Metabolic and Neural Science, University of Modena and Reggio Emilia, Modena; Neurology Unit (GA, FC, VF, GDR, JR, GT, CZ, FV), Neuromotor and Rehabilitation Department; Otolaryngology Unit (AC, A. Ghidini), Azienda USL-IRCCS di Reggio Emilia; Neurology (A. Gessani), Neuroscience Head Neck Department, Azienda Ospedaliero-Universitaria di Modena; LAM-Motion Analysis Laboratory (IC, AM), Neuromotor and Rehabilitation Department; Neuroradiology Unit (MN), Azienda USL-IRCCS di Reggio Emilia; and Clinical and Experimental Medicine PhD Program (SG, JR), University of Modena and Reggio Emilia, Italy.ORCID https://orcid.org/0000-0001-7159-9311
Annalisa GessaniNeurology Unit (GA, GDR), Department of Biomedical, Metabolic and Neural Science, University of Modena and Reggio Emilia, Modena; Neurology Unit (GA, FC, VF, GDR, JR, GT, CZ, FV), Neuromotor and Rehabilitation Department; Otolaryngology Unit (AC, A. Ghidini), Azienda USL-IRCCS di Reggio Emilia; Neurology (A. Gessani), Neuroscience Head Neck Department, Azienda Ospedaliero-Universitaria di Modena; LAM-Motion Analysis Laboratory (IC, AM), Neuromotor and Rehabilitation Department; Neuroradiology Unit (MN), Azienda USL-IRCCS di Reggio Emilia; and Clinical and Experimental Medicine PhD Program (SG, JR), University of Modena and Reggio Emilia, Italy.ORCID https://orcid.org/0000-0002-3494-5788
Isabella CampaniniNeurology Unit (GA, GDR), Department of Biomedical, Metabolic and Neural Science, University of Modena and Reggio Emilia, Modena; Neurology Unit (GA, FC, VF, GDR, JR, GT, CZ, FV), Neuromotor and Rehabilitation Department; Otolaryngology Unit (AC, A. Ghidini), Azienda USL-IRCCS di Reggio Emilia; Neurology (A. Gessani), Neuroscience Head Neck Department, Azienda Ospedaliero-Universitaria di Modena; LAM-Motion Analysis Laboratory (IC, AM), Neuromotor and Rehabilitation Department; Neuroradiology Unit (MN), Azienda USL-IRCCS di Reggio Emilia; and Clinical and Experimental Medicine PhD Program (SG, JR), University of Modena and Reggio Emilia, Italy.ORCID https://orcid.org/0000-0002-9286-6711
Andrea MerloNeurology Unit (GA, GDR), Department of Biomedical, Metabolic and Neural Science, University of Modena and Reggio Emilia, Modena; Neurology Unit (GA, FC, VF, GDR, JR, GT, CZ, FV), Neuromotor and Rehabilitation Department; Otolaryngology Unit (AC, A. Ghidini), Azienda USL-IRCCS di Reggio Emilia; Neurology (A. Gessani), Neuroscience Head Neck Department, Azienda Ospedaliero-Universitaria di Modena; LAM-Motion Analysis Laboratory (IC, AM), Neuromotor and Rehabilitation Department; Neuroradiology Unit (MN), Azienda USL-IRCCS di Reggio Emilia; and Clinical and Experimental Medicine PhD Program (SG, JR), University of Modena and Reggio Emilia, Italy.ORCID https://orcid.org/0000-0002-5587-5686
Manuela NapoliNeurology Unit (GA, GDR), Department of Biomedical, Metabolic and Neural Science, University of Modena and Reggio Emilia, Modena; Neurology Unit (GA, FC, VF, GDR, JR, GT, CZ, FV), Neuromotor and Rehabilitation Department; Otolaryngology Unit (AC, A. Ghidini), Azienda USL-IRCCS di Reggio Emilia; Neurology (A. Gessani), Neuroscience Head Neck Department, Azienda Ospedaliero-Universitaria di Modena; LAM-Motion Analysis Laboratory (IC, AM), Neuromotor and Rehabilitation Department; Neuroradiology Unit (MN), Azienda USL-IRCCS di Reggio Emilia; and Clinical and Experimental Medicine PhD Program (SG, JR), University of Modena and Reggio Emilia, Italy.ORCID https://orcid.org/0000-0002-0434-4172
Sara GrisantiNeurology Unit (GA, GDR), Department of Biomedical, Metabolic and Neural Science, University of Modena and Reggio Emilia, Modena; Neurology Unit (GA, FC, VF, GDR, JR, GT, CZ, FV), Neuromotor and Rehabilitation Department; Otolaryngology Unit (AC, A. Ghidini), Azienda USL-IRCCS di Reggio Emilia; Neurology (A. Gessani), Neuroscience Head Neck Department, Azienda Ospedaliero-Universitaria di Modena; LAM-Motion Analysis Laboratory (IC, AM), Neuromotor and Rehabilitation Department; Neuroradiology Unit (MN), Azienda USL-IRCCS di Reggio Emilia; and Clinical and Experimental Medicine PhD Program (SG, JR), University of Modena and Reggio Emilia, Italy.ORCID https://orcid.org/0000-0002-7892-1788
Jessica RossiNeurology Unit (GA, GDR), Department of Biomedical, Metabolic and Neural Science, University of Modena and Reggio Emilia, Modena; Neurology Unit (GA, FC, VF, GDR, JR, GT, CZ, FV), Neuromotor and Rehabilitation Department; Otolaryngology Unit (AC, A. Ghidini), Azienda USL-IRCCS di Reggio Emilia; Neurology (A. Gessani), Neuroscience Head Neck Department, Azienda Ospedaliero-Universitaria di Modena; LAM-Motion Analysis Laboratory (IC, AM), Neuromotor and Rehabilitation Department; Neuroradiology Unit (MN), Azienda USL-IRCCS di Reggio Emilia; and Clinical and Experimental Medicine PhD Program (SG, JR), University of Modena and Reggio Emilia, Italy.ORCID https://orcid.org/0000-0002-1856-7422
Giulia ToschiNeurology Unit (GA, GDR), Department of Biomedical, Metabolic and Neural Science, University of Modena and Reggio Emilia, Modena; Neurology Unit (GA, FC, VF, GDR, JR, GT, CZ, FV), Neuromotor and Rehabilitation Department; Otolaryngology Unit (AC, A. Ghidini), Azienda USL-IRCCS di Reggio Emilia; Neurology (A. Gessani), Neuroscience Head Neck Department, Azienda Ospedaliero-Universitaria di Modena; LAM-Motion Analysis Laboratory (IC, AM), Neuromotor and Rehabilitation Department; Neuroradiology Unit (MN), Azienda USL-IRCCS di Reggio Emilia; and Clinical and Experimental Medicine PhD Program (SG, JR), University of Modena and Reggio Emilia, Italy.ORCID https://orcid.org/0009-0003-1987-0495
Chiara ZiniNeurology Unit (GA, GDR), Department of Biomedical, Metabolic and Neural Science, University of Modena and Reggio Emilia, Modena; Neurology Unit (GA, FC, VF, GDR, JR, GT, CZ, FV), Neuromotor and Rehabilitation Department; Otolaryngology Unit (AC, A. Ghidini), Azienda USL-IRCCS di Reggio Emilia; Neurology (A. Gessani), Neuroscience Head Neck Department, Azienda Ospedaliero-Universitaria di Modena; LAM-Motion Analysis Laboratory (IC, AM), Neuromotor and Rehabilitation Department; Neuroradiology Unit (MN), Azienda USL-IRCCS di Reggio Emilia; and Clinical and Experimental Medicine PhD Program (SG, JR), University of Modena and Reggio Emilia, Italy.ORCID https://orcid.org/0009-0006-7780-6151
Angelo GhidiniNeurology Unit (GA, GDR), Department of Biomedical, Metabolic and Neural Science, University of Modena and Reggio Emilia, Modena; Neurology Unit (GA, FC, VF, GDR, JR, GT, CZ, FV), Neuromotor and Rehabilitation Department; Otolaryngology Unit (AC, A. Ghidini), Azienda USL-IRCCS di Reggio Emilia; Neurology (A. Gessani), Neuroscience Head Neck Department, Azienda Ospedaliero-Universitaria di Modena; LAM-Motion Analysis Laboratory (IC, AM), Neuromotor and Rehabilitation Department; Neuroradiology Unit (MN), Azienda USL-IRCCS di Reggio Emilia; and Clinical and Experimental Medicine PhD Program (SG, JR), University of Modena and Reggio Emilia, Italy.ORCID https://orcid.org/0000-0002-4117-1901
Franco ValzaniaNeurology Unit (GA, GDR), Department of Biomedical, Metabolic and Neural Science, University of Modena and Reggio Emilia, Modena; Neurology Unit (GA, FC, VF, GDR, JR, GT, CZ, FV), Neuromotor and Rehabilitation Department; Otolaryngology Unit (AC, A. Ghidini), Azienda USL-IRCCS di Reggio Emilia; Neurology (A. Gessani), Neuroscience Head Neck Department, Azienda Ospedaliero-Universitaria di Modena; LAM-Motion Analysis Laboratory (IC, AM), Neuromotor and Rehabilitation Department; Neuroradiology Unit (MN), Azienda USL-IRCCS di Reggio Emilia; and Clinical and Experimental Medicine PhD Program (SG, JR), University of Modena and Reggio Emilia, Italy.ORCID https://orcid.org/0000-0003-4887-1692
University of Modena and Reggio Emilia · IT
Funding
No grant is acknowledged in the PubMed record.
Abstract
Objectives: Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is an early-onset ataxia characterized by cerebellar dysfunction, spasticity, and sensory-motor polyneuropathy due to variations in the Methods: We report a 36-year-old woman with diagnosis of ARSACS syndrome due to homozygous mutation (c.12232 C>T, p.Arg4078Ter) in the Results: A vestibular instrumental evaluation including bedside oculomotor testing found gaze-evoked and rebound nystagmus on horizontal and vertical gaze, saccadic movements within normality ranges, saccadic pursuit, and slightly impaired visually enhanced vestibulo-ocular reflex (VVOR). A near-normal VOR suppression (VORS) was recorded. Neither head shakings, skull vibrations, nor supine positionings could evoke nystagmus. Finally, the video-head impulse test detected a symmetrical VOR impairment for all the semicircular canals (SCs), mostly involving the horizontal SCs, with corrective saccades in all planes. Discussion: Vestibular hypofunction may be found in ARSACS syndrome and may represent a possible pitfall in the differential diagnosis of recessive cerebellar and afferent ataxias. In this setting, ARSACS syndrome should be considered in the differential diagnosis of CANVAS.
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