Research in Vestibular Science

Review Article

Vestibulo-ocular reflex findings in key subtypes of hereditary cerebellar ataxia: a review: Jae-Myung Kim, Alexander Andrea Tarnutzer, Seung-Han Lee; Res Vestib Sci. 2025;24(2):79-88. Published online June 15, 2025; DOI: https://doi.org/10.21790/rvs.2025.003

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Abstract PDF: Vestibulo-ocular reflex (VOR) impairments are common in central vestibular disorders and may provide critical insights into disease-specific pathophysiology and diagnosis. Recent advances in quantitative VOR and oculomotor measurement techniques, such as video head impulse testing and video-oculography, have further enhanced the accuracy and efficiency of these assessments. This is particularly important in the field of hereditary cerebellar ataxia, where definitive diagnosis still depends on genetic testing due to significant overlap in clinical phenotypes and considerable variability. This review focuses on four representative subtypes selected based on both global prevalence and the predominance of vestibular dysfunction, as evaluated by quantitative assessments: spinocerebellar ataxia type 3 (SCA3), SCA6, Friedreich ataxia (FRDA), and cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS). Quantitative vestibular assessments revealed distinct patterns of VOR impairment. SCA3 and CANVAS consistently show markedly reduced angular VOR (aVOR) gains across all stimulation frequencies and measurement techniques. In contrast, FRDA demonstrates aVOR impairments primarily during high-frequency stimuli, with inconsistent low-frequency responses. SCA6 is characterized by frequent high-frequency aVOR impairments, predominantly affecting horizontal and posterior canals, while low-frequency responses remain variable. Notably, aVOR suppression (VOR cancellation) is severely impaired in SCA6 and in approximately half of FRDA cases, but relatively preserved in SCA3 and CANVAS, offering a potential marker for differential diagnosis. An integrated assessment of vestibular and oculomotor findings may provide valuable diagnostic clues. This review aims to assist clinicians and researchers in understanding the characteristic VOR profiles of key hereditary cerebellar ataxias.

Case Reports

A Case of Spinocerebellar Ataxia Type 28: Jae-Hwan Choi, Eun Hye Oh, Seo Young Choi, Kwang-Dong Choi; Res Vestib Sci. 2021;20(1):33-36. Published online March 11, 2021; DOI: https://doi.org/10.21790/rvs.2021.20.1.33

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Abstract PDF: Spinocerebellar ataxia type 28 (SCA 28) is characterized by young-adult onset, very slowly progressive gait and limb ataxia, dysarthria, nystagmus, ptosis, and ophthalmoplegia. It is caused by a heterozygous pathogenic mutation in the AFG3L2. So far, approximately 80 cases with genetically-confirmed SCA 28 have been reported in the literature. We report a patient with mild gait ataxia and dysarthria who carried a known pathogenic mutation in the AFG3L2. This is the first report of genetically-confirmed SCA 28 in Korea.

Post Infectious Cerebellar Ataxia with Abnormal Brain Magnetic Resonance Imaging and Single Photon Emission Computed Tomography Findings: Hae Joo Rha, Jae Han Park; Res Vestib Sci. 2017;16(4):167-170. Published online December 15, 2017; DOI: https://doi.org/10.21790/rvs.2017.16.4.167

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Abstract PDF: A 84-year-old woman presented with a two weeks history of dizziness, slurred speech and ataxia. The neurological exam showed spontaneous left beating nystagmus, horizontal gaze evoked nystagmus and limb ataxia. A few weeks earlier, she had an upper airway infection. Brain MRI revealed diffuse leptomeningeal enhancement in the both cerebellar hemisphere and brain single photon emission computed tomography (SPECT) showed hyperperfusion in both cerebellar hemisphere. Extensive laboratory studies with cerebrospinal fluid analysis did not reveal any etiologic factors. She was started on methylprednisolone (1 g/day for 7 days), gradually improved over the weeks. Post infectious cerebellar ataxia is a neurologic complication that occasionally follows systemic viral and bacterial infections. This case demonstrates that cerebellar abnormalities can be detected by brain magnetic resonance imaging and SPECT.

Brain Hypometabolism in Cerebellar Ataxia, Neuropathy, Vestibular Areflexia Syndrome: Byoung-Min Jeong, Byoung-Soo Shin, Man-Wook Seo, Ji-Yun Park, Hwan-Jeong Jeong, Sun-Young Oh; Res Vestib Sci. 2017;16(4):156-160. Published online December 15, 2017; DOI: https://doi.org/10.21790/rvs.2017.16.4.156

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Abstract PDF: Cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS) is a slowing progressive ataxic disorder characterized by bilateral vestibulopathy, cerebellar ataxia and somatosensory impairment. Autonomic dysfunction is recently considered as a core feature in CANVAS in addition to these symptoms. In most cases, patients with CANVAS show cerebellar atrophy in brain imaging, but some cases show minimal or no atrophy of cerebellum. Brain (18F)-fluoro-2-deoxy-D-glucose positron emission tomography (¹⁸F-FDG PET) study can be a complimentary tool to diagnosis CANVAS in cases of no structural abnormality such as cerebellar atrophy. Hereby, we present a case of CANVAS with minimal atrophy of cerebellum but showing a prominent hypometabolism in cerebellum, thalamus and posterior cingulate cortex in ¹⁸F-FDG PET.

Review

Genetic Approach of Dizziness: Jae Hwan Choi; Res Vestib Sci. 2015;14(4):101-109.

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Abstract PDF: Patients with recurrent vertigo/dizziness or unsteadiness are a heterogeneous group of complex disorders affecting the peripheral and central vestibular system. They represent a diagnostic challenge for the clinicians, and their genetic basis is largely not known. However, there are some cerebellar and vestibular disorders with a strong genetic background, such as episodic ataxia, spinocerebellar ataxia, vestibular migraine, Meniere’s disease, and autosomal dominant nonsyndromic deafness. Furthermore, recent advances in next generation sequencing technique are increasing the number of novel genes associated with cerebellar and vestibular disorders. In this article, we have summarized clinical and molecular genetics findings in neuro-otology.

Case Report

Vestibular Dysfunction in Acute Cerebellar Ataxia: Chang Min Lee; Res Vestib Sci. 2015;14(1):21-25.

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Abstract PDF: Acute cerebellar ataxia is described as a clinical syndrome of acute onset of cerebellar dysfunction with a good long-term prognosis. The pathogenesis of acute cerebellar ataxia remains unclear. A 55-year-old woman presented with acute onset of gait ataxia and dysarthria. The videonystagmography showed saccadic pursuit and saccadic abnormalities including slightly prolonged latency and hypometria. Rotational chair test revealed increased vestibuloocular reflex (VOR) gains and a failure of VOR suppression by visual fixation. Brain magnetic resonance imaging and cerebrospinal fluid examination were normal. The patient was treated with steroids and made nearly complete recovery over a period of 3 months.

Original Article

New Views of the Translational Vestibulo-ocular Reflex in Healthy Human Subjects and in Patients with Neurological Disease who Fall: R John Leigh, Ke Liao, Jae Il Kim; Res Vestib Sci. 2010;9(3):100-107.

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Abstract PDF: Background and Objectives: The vestibulo-ocular reflexes (VOR) act a short latency to optimize vision during locomotion. The angular VOR (aVOR) has been widely studied in human subjects and preserves clear, stable vision during rotational head perturbations by generating eye movements that hold the line of sight on the target of interest. Less is known about the properties of the linear or translational VOR (tVOR), mainly due to technical difficulties posed by testing head or body translations. Geometric considerations indicate that different properties should be expected of tVOR, which can only provide stable vision of objects lying in one depth plane. Materials and Methods: We studied the human tVOR using a moving platform to translate normal human subjects vertically at frequencies similar to those occurring during locomotion. We found that, whereas aVOR is concerned with holding retinal images fairly stable to optimize clear vision, tVOR seems best suited to minimize relative motion of retinal images belonging to objects lying in different depth planes-and thereby to optimize motion parallax information. We also investigated whether the tVOR functioned abnormally in patients with neurological disorders causing falls-progressive supranuclear palsy (PSP) and cerebellar ataxia. Results: Both groups of patients showed impaired ability to modulate their tVOR during viewing of near targets; in PSP this might be attributed to failure of convergence, but cerebellar patients failed to modulate tVOR at near despite intact convergence. Conclusion: In both disorders, an impaired ability to adjust tVOR for viewing distance points to central disturbance of otolithic vestibular reflexes, which may also contribute to postural instability.

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