Saccadic eye movements in juvenile variant of Huntington disease

Grabska, Natalia; Rudzińska, Monika; Wójcik-Pędziwiatr, Magdalena; Michalski, Michał; Sławek, Jarosław; Szczudlik, Andrzej

doi:10.1016/j.pjnns.2014.06.003

Cited by 11 publications

(15 citation statements)

References 21 publications

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“…These data suggest that oculomotor abnormalities are a very early manifestation of the HD gene 43,50,51,52,53 . Furthermore, this is evidence of eye movement abnormalities in individuals with so-called presymptomatic or premanifested HD, ie, those who carry the gene mutation, but have not met diagnostic criteria for HD.…”

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confidence: 75%

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Abnormal eye movements in three types of chorea

Attoni

Beato

Pinto

et al. 2016

Arq. Neuro-Psiquiatr.

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Chorea is an abnormal movement characterized by a continuous flow of random muscle contractions. This phenomenon has several causes, such as infectious and degenerative processes. Chorea results from basal ganglia dysfunction. As the control of the eye movements is related to the basal ganglia, it is expected, therefore, that is altered in diseases related to chorea. Sydenham’s chorea, Huntington’s disease and neuroacanthocytosis are described in this review as basal ganglia illnesses that can present with abnormal eye movements. Ocular changes resulting from dysfunction of the basal ganglia are apparent in saccade tasks, slow pursuit, setting a target and anti-saccade tasks. The purpose of this article is to review the main characteristics of eye motion in these three forms of chorea.

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confidence: 75%

“…Antisaccadic movements have more complex functions 13 . In general, HD patients are often unable to perform this task, because they are always attracted to the stimuli, resulting in great difficulty in controlling saccades 17,43 . Patients who can produce this type of movement have a greater latency 31,44 .…”

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confidence: 99%

Abnormal eye movements in three types of chorea

Attoni

Beato

Pinto

et al. 2016

Arq. Neuro-Psiquiatr.

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“…Dentre os distúrbios psiquiátricos, os principais encontrados são alterações de comportamento, incluindo irritabilidade e depressão. Alguns autores afirmam que os pacientes com DHJ possuem maiores taxas de ideação suicida 8,14 . Maiores índices de suicídio também ocorrem quando um dos pais apresenta DH 3 .…”

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“…Os autores também reforçam que o início dos sintomas pode cursar com alterações na função executiva e desempenho escolar, depressão, ansiedade e distúrbios de movimento 2,4,5,7,8,15,16 , bem como que as convulsões apresentadas pelos pacientes podem ser mistas de diferentes tipos 17 . Outro sintoma, que se assemelha à DH adulta, consiste nos movimentos oculares sacádicos alterados, que podem estar relacionados diretamente com a gravidade da DHJ 14 .…”

Section: Dicussãounclassified

Manifestações neuropsicomotoras da doença de Huntington juvenil

Nogueira

Rocha

Vasconcelos

et al. 2019

Rev. Med. (São Paulo)

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Nogueira LA, Rocha AEO, Vasconcelos LM, Figueiredo Junior JAB, Bragato SGR. Manifestações neuropsicomotoras da doença de Huntington juvenil: sinais e sintomas e achados de imagem / Neuropsychomotor manifestations of juvenile Huntington's disease: signs and symptoms and imaging findings. Rev Med (São Paulo). 2019 nov.-dez.;98(6):408-14. RESUMO: A Doença de Huntington Juvenil (DHJ) consiste na neurodegeneração de células nervosas causada pela formação da proteína alterada denominada huntingtina, acumuladano citoplasma e núcleo de neurônios, capaz de gerar morte progressiva destas células de forma mais evidente no corpo estriado, que engloba os núcleos caudado e putâmen. A variante juvenil da Doença de Huntington manifesta-se em pacientes com idades entre 0 a 20 anos, com variedade de distúrbios motores, cognitivos e comportamentais. Com o objetivo de estudar os mais prevalentes sinais, sintomas e achados de imagem, bem como as manifestações iniciais e a evolução sintomatológica ao decorrer da doença, foi realizada uma revisão integrativa de literaturas, incluindo o total de 25 artigos selecionados após a adequação de critérios de exclusão e inclusão. Após a análise dos dados, concluiu-se que os sintomas mais destacados foram rigidez muscular, disartria, convulsões, bradicinesia e disfunções cognitivas e comportamentais. Em se tratando de achados de imagem, prevaleceram atrofia de núcleos da base e cerebelo em pacientes com a doença mais avançada e diagnosticados em tempo maior.ABSTRACT: Juvenile Huntington's disease consists of neurodegeneration of nerve cells caused by the formation of the altered protein called huntingtin, accumulated in the cytoplasm and nucleus of neurons, capable of generating progressive death of these cells more clearly in the striatum, which includes the nuclei caudate and putamen. The juvenile variant of Huntington's disease manifests in patients aged 0 to 20 years, with a variety of motor, cognitive and behavioral disorders. In order to study the most prevalent signs, symptoms and imaging findings, as well as the initial manifestations and the symptomatic evolution during the course of the disease, an integrative literature review was carried out, including a total of 25 articles selected after the adequacy of criteria exclusion and inclusion. After analyzing the data, it was concluded that the most prominent symptoms were muscle stiffness, dysarthria, seizures, bradykinesia and cognitive and behavioral dysfunctions. In terms of imaging findings, atrophy of nuclei of the base and cerebellum prevailed in patients with the most advanced disease and diagnosed in greater time.

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“…The onset of clinical HD is determined on the basis of alterations in motor functioning (Huntington Study Group, 1996); however, the order of symptoms' presentation is variable. It is well known that changes in oculomotor performance, as measured in laboratory settings, are one of the earliest detectable manifestations in HD and have the potential to output objective measures of disease status and progression (Anderson & MacAskill, 2013;André-Thomas, Abely, de Ajuriaguerra, & Eullien, 1945;Deurex, 1945;Grabska et al, 2014;Peltsch, Hoffman, Armstrong, Pari, & Munoz, 2008). The search for such objective measures has been a research hallmark, aimed at the validation and evaluation of novel therapeutic approaches that could be based on such disease-stage markers Electronic supplementary material The online version of this article (doi:10.3758/s13428-015-0683-z) contains supplementary material, which is available to authorized users.…”

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confidence: 99%

Classification of Huntington’s disease stage with support vector machines: A study on oculomotor performance

et al. 2015

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Alterations in oculomotor performance are among the first observable physical alterations during presymptomatic stages of Huntington's disease (HD). Quantifiable measurements of oculomotor performance have been studied as possible markers of disease status and progression in presymptomatic and early symptomatic stages of HD, on the basis of traditional analysis methods. Whether oculomotor performance can be used to classify individuals according to HD disease stage has yet to be explored via the application of machine-learning methods. In the present study, we report the application of the support vector machine (SVM) algorithm to oculomotor features pooled from a four-task psychophysical experiment. We were able to automatically distinguish control participants from presymptomatic HD (pre-HD) participants with an accuracy of 73.47 %, a sensitivity of 74.31 %, and a specificity of 72.64 %; to distinguish control participants from HD patients with an accuracy of 81.84 %, a sensitivity of 76.19 %, and a specificity of 87.48 %; and to distinguish pre-HD participants from HD patients with an accuracy of 83.54 %, a sensitivity of 92.62 %, and a specificity of 74.45 %. These results demonstrate that the application of supervised classification methods to oculomotor features is a valuable and promising approach to the automatic detection of disease stage in HD.

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Saccadic eye movements in juvenile variant of Huntington disease

Cited by 11 publications

References 21 publications

Abnormal eye movements in three types of chorea

Abnormal eye movements in three types of chorea

Manifestações neuropsicomotoras da doença de Huntington juvenil

Classification of Huntington’s disease stage with support vector machines: A study on oculomotor performance

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