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Neurology 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.
Published: February 2024
AI Article Synopsis
Article 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 gene (13q11). To date, no studies have instrumentally assessed vestibular function in this condition.
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 gene. Neurologic examination showed spastic-ataxic gait, dysarthric speech, 4-limb ataxia, and spastic hypertonia with lower limb hyperreflexia.
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.
