Static and Dynamic Ocular Motor Abnormalities as Potential Biomarkers in Spinocerebellar Ataxia Type 3

Lemos, Joâo; Novo, Ana; Duque, Cristina; Cunha, Inês; Ribeiro, Joana; Castelhano, João; Januário, Cristina

doi:10.1007/s12311-020-01217-4

Cited by 5 publications

(6 citation statements)

References 22 publications

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“…Abnormal HITs are frequently observed in patients with SCA3. Horizontal VOR dysfunction detected using bedside (76)(77)(78) and video (35,67) HITs has been confirmed in several studies. These results are supported by other studies that recorded ocular movements using the magnetic search coil technique (77,79).…”

Section: Sca Typementioning

confidence: 72%

“…Abnormal oculomotor disturbances are common in patients with SCA3. Common eye movement impairments include gaze-evoked nystagmus, impaired smooth pursuit, saccadic intrusions and saccadic dysmetria (27,66,67). Furthermore, the number of different types of ocular motor abnormalities, including impaired smooth pursuits, increased SWJs and GEN, is positively associated with ataxia severity (66) and is not related to the length of CAG repeats (68).…”

Section: Sca Typementioning

confidence: 99%

“…Certain patients with SCA3 also present with vergence abnormalities even in the early stage (72), and a high frequency of exotropia and multi-axial micro-saccadic oscillations have also been described in a small cohort (73). Conversely, another study on static ocular motor disorders suggested that patients with SCA3 exhibit esodeviation at distance and exhibit more pronounced esodeviation in lateral gaze; adducting saccades demonstrate higher velocities and amplitudes and larger vertical displacement compared with abducting saccades (67). Another abnormality observed in patients with SCA3 is the existence of alternating monocular adducting saccade pulses (74,75).…”

Section: Sca Typementioning

confidence: 99%

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Visual oculomotor abnormalities and vestibulo‑ocular reflex dynamics in polyglutamine spinocerebellar ataxias (Review)

Peng

Han

et al. 2023

Exp Ther Med

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Spinocerebellar ataxias (SCAs) are a group of autosomal dominant neurodegenerative diseases that are characterized by cerebellar ataxia. The most common types of SCAs are caused by polyglutamine (polyQ)-encoding cytosine-adenine-guanine repeat expansions. Autosomal dominant SCAs share similar pathophysiological mechanisms. The cerebellum plays an important role in the generation and control of eye movement, and neuropathological findings indicate that cerebellar degeneration is commonly present in polyQ-SCAs. As a result, various patterns of oculomotor impairment are present in most SCA subtypes. The present review summarizes the visual oculomotor abnormalities and vestibulo-ocular reflex dynamics of the most common polyQ-SCAs, as well as their genetic, clinical and neuropathological features. In conclusion, the systemic evaluation of eye movement features is useful in the differential diagnosis of polyQ-SCAs. Contents1. Introduction 2. SCA type 1 3. SCA type 2 4. SCA type 3 5. SCA type 6 6. SCA type 7 7. SCA type 17 8. Conclusions

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Section: Sca Typementioning

confidence: 72%

Section: Sca Typementioning

confidence: 99%

Section: Sca Typementioning

confidence: 99%

See 1 more Smart Citation

Visual oculomotor abnormalities and vestibulo‑ocular reflex dynamics in polyglutamine spinocerebellar ataxias (Review)

Peng

Han

et al. 2023

Exp Ther Med

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“…For example, REM sleep behavioral disorder can be present early on in those with multiple system atrophy (MSA). Ocular assessment includes both static and dynamic deficits which can both be used as potential biomarkers [ 12 ].…”

Section: Unravelling Early Predictors: Opening the Box Of Novel Biomarkers To Complement Neuroimaging Toolsmentioning

confidence: 99%

Identification of the Prodromal Symptoms and Pre-Ataxic Stage in Cerebellar Disorders: The Next Challenge

Manto

Shaikh

Mitoma

2021

IJERPH

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Cerebellar ataxias (CAs) manifest with a combination of motor incoordination, cognitive, affective and recently identified social symptoms. Novel therapies aim to stop the progression of the subgroup of the degenerative ataxias, or even to cure the disease with a functional and anatomical restoration of the cerebellar circuitry in the near future. The goal of stopping the progression of the disease is particularly relevant if applied at a very early stage of the disease, when the cerebellar reserve is only slightly impaired. Therefore, the search of the prodromal phase or pre-ataxic stage of CAs represents a very important challenge for the scientific community. The identification of pre-manifest individuals and the recruitment of individuals at risk has become a key-challenge to address neuroprotective therapies. The feasibility is high due to the recent progress in the biological and morphological biomarkers of CAs.

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“…7,8 Outcomes other than clinical scales might help overcome ES issues. Eye movements are clearly dysfunctional, [9][10][11][12] may be good outcomes, and might start before ataxia onset. 8,13,14 However, longitudinal progressions of quantitative eye movement parameters are still unknown in SCA3/MJD.…”

mentioning

confidence: 99%

Progression of Clinical and Eye Movement Markers in Preataxic Carriers of Machado‐Joseph Disease

et al. 2022

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Background Little is known about preclinical stages of Machado‐Joseph disease, a polyglutamine disorder characterized by progressive adult‐onset ataxia. Objective We aimed to describe the longitudinal progression of clinical and oculomotor variables in the preataxic phase of disease. Methods Carriers and noncarriers were assessed at three visits. Preataxic carriers (Scale for Assessment and Rating of Ataxia score < 3) expected to start ataxia in ≤4 years were considered near onset (PAN). Progressions of ataxic and preataxic carriers, considering status at the end of the study, were described according to the start (or its prediction) of gait ataxia (TimeToAfterOnset) and according to the study time. Results A total of 35 ataxics, 38 preataxics, and 22 noncarriers were included. The “TimeToAfterOnset” timeline showed that Neurological Examination Scale for Spinocerebellar Ataxias (NESSCA; effect size, 0.09), Inventory of Non‐Ataxia Symptoms (INAS0.07), and the vestibulo‐ocular reflex gain (0.12) progressed in preataxic carriers, and that most slopes accelerate in PAN, turning similar to those of ataxics. In the study time, NESSCA (1.36) and vertical pursuit gain (1.17) significantly worsened in PAN, and 6 of 11 PANs converted to ataxia. For a clinical trial with 80% power and 2‐year duration, 57 PANs are needed in each study arm to detect a 50% reduction in the conversion rate. Conclusions NESSCA, INAS, vestibulo‐ocular reflex, and vertical pursuit gains significantly worsened in the preataxic phase. The “TimeToAfterOnset” timeline unveiled that slopes of most variables are small in preataxics but increase and reach the ataxic slopes from 4 years before the onset of ataxia. For future trials in preataxic carriers, we recommend recruiting PANs and using the conversion rate as the primary outcome. © 2022 International Parkinson and Movement Disorder Society.

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Static and Dynamic Ocular Motor Abnormalities as Potential Biomarkers in Spinocerebellar Ataxia Type 3

Cited by 5 publications

References 22 publications

Visual oculomotor abnormalities and vestibulo‑ocular reflex dynamics in polyglutamine spinocerebellar ataxias (Review)

Visual oculomotor abnormalities and vestibulo‑ocular reflex dynamics in polyglutamine spinocerebellar ataxias (Review)

Identification of the Prodromal Symptoms and Pre-Ataxic Stage in Cerebellar Disorders: The Next Challenge

Progression of Clinical and Eye Movement Markers in Preataxic Carriers of Machado‐Joseph Disease

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