Eye Movement Abnormalities in Spinocerebellar Ataxias

Rodríguez‐Labrada, Roberto; Velázquez‐Pérez, Luis

doi:10.5772/28545

Cited by 3 publications

(3 citation statements)

References 108 publications

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“…In addition, SCA2 patients exhibit significant increases in saccade latency ( 28 ) and saccade dysmetria, which together with saccade slowing deteriorates over time ( 24 ). Other oculomotor features include abnormal smooth pursuit, reduced vestibulo-ocular reflex, and ophtalmoplegia, whereas nystagmus is very rare due to impaired ability to produce saccadic corrective phases ( 27 , 29 ).…”

Section: Phenotypical Featuresmentioning

confidence: 99%

Spinocerebellar Ataxia Type 2: Clinicogenetic Aspects, Mechanistic Insights, and Management Approaches

2017

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Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominant cerebellar ataxia that occurs as a consequence of abnormal CAG expansions in the ATXN2 gene. Progressive clinical features result from the neurodegeneration of cerebellum and extra-cerebellar structures including the pons, the basal ganglia, and the cerebral cortex. Clinical, electrophysiological, and imaging approaches have been used to characterize the natural history of the disease, allowing its classification into four distinct stages, with special emphasis on the prodromal stage, which is characterized by a plethora of motor and non-motor features. Neuropathological investigations of brain tissue from SCA2 patients reveal a widespread involvement of multiple brain systems, mainly cerebellar and brainstem systems. Recent findings linking ataxin-2 intermediate expansions to other neurodegenerative diseases such as amyotrophic lateral sclerosis have provided insights into the ataxin-2-related toxicity mechanism in neurodegenerative diseases and have raised new ethical challenges to molecular predictive diagnosis of SCA2. No effective neuroprotective therapies are currently available for SCA2 patients, but some therapeutic options such as neurorehabilitation and some emerging neuroprotective drugs have shown palliative benefits.

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Section: Phenotypical Featuresmentioning

confidence: 99%

Spinocerebellar Ataxia Type 2: Clinicogenetic Aspects, Mechanistic Insights, and Management Approaches

2017

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“…The former abnormalities are the most common and include the presence of pathological nystagmus, abnormal smooth pursuit, and saccadic dysmetria, whereas the impaired VOR, saccadic slowing, and ophthalmoplegia are related with pontine degeneration. Nevertheless, the notable overlapping of oculomotor features between SCA subtypes implies the requirement of other clinical criteria or the genetic testing for sensitively discriminating among these diseases [74][75][76][77][78] (Figure 2).…”

Section: Hereditary Ataxiasmentioning

confidence: 99%

Eye Movement Abnormalities in Neurodegenerative Diseases

2019

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Neurodegenerative disorders consist in heterogeneous group of neurological conditions characterized by a wide spectrum of clinical features resulting from a progressive involvement of distinct neuron populations. Oculomotor abnormalities take a key place in the clinical picture of these disorders because the neurodegenerative processes involve the brain circuits of eye movements. The most common abnormalities include the saccadic dysfunction, fixation instability, and abnormal smooth pursuit. The clinical assessment of oculomotor function can help to differentiate diagnosis, while electrophysiological measures provide useful biomarkers for the understanding of disease physiopathology and progression. In this chapter, we review the state of the art of the eye movement's deficits in some neurodegenerative diseases, such as Parkinson's disease, Alzheimer's disease, amyotrophic lateral sclerosis, Huntington's disease, and the hereditary ataxias.

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“…This situation is tied greatly on the degree of affectation present in the subject [24]. One of the critical parts of the algorithm is the identification of velocities impulses which can potentially be saccades.…”

Section: Impulses Detectionmentioning

confidence: 99%

Non Spontaneous Saccadic Movements Identification in Clinical Electrooculography Using Machine Learning

Becerra-García

García−Bermúdez

Joya-Caparrós

et al. 2015

Advances in Computational Intelligence

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Abstract. In this paper we evaluate the use of the machine learning algorithms Support Vector Machines, K-Nearest Neighbors, CART decision trees and Naive Bayes to identify non spontaneous saccades in clinical electrooculography tests. Our approach tries to solve problems like the use of manually established thresholds present in classical methods like identification by velocity threshold (I-VT) or identification by dispersion threshold (I-DT). We propose a modification to an adaptive threshold estimation algorithm for detecting signal impulses without the need of any user input. Also, a set of features were selected to take advantage of intrinsic characteristics of clinical electrooculography tests. The models were evaluated with signals recorded to subjects affected by Spinocerebellar Ataxia type 2 (SCA2). Results obtained by the algorithm shows accuracies over 97%, recalls over 97% and precisions over 91% for the four models evaluated.

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Eye Movement Abnormalities in Spinocerebellar Ataxias

Cited by 3 publications

References 108 publications

Spinocerebellar Ataxia Type 2: Clinicogenetic Aspects, Mechanistic Insights, and Management Approaches

Spinocerebellar Ataxia Type 2: Clinicogenetic Aspects, Mechanistic Insights, and Management Approaches

Eye Movement Abnormalities in Neurodegenerative Diseases

Non Spontaneous Saccadic Movements Identification in Clinical Electrooculography Using Machine Learning

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