A Cortical Substrate for Square-Wave Jerks in Progressive Supranuclear Palsy

Anagnostou, Evangelos; Karavasilis, Efstratios; Potiri, Irini; Constantinides, Vasilios C.; Efstathopoulos, Efstathios; Kapaki, Elisavet; Potagas, Constantinos

doi:10.3988/jcn.2020.16.1.37

Cited by 17 publications

(12 citation statements)

References 49 publications

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“…While a number of conditions are associated with specific eye movement deficits, SWJs are not known to be characteristic of any other mental illness. SWJs are present in individuals with neurological conditions such as Friedreich's ataxia (Fahey et al, 2008), progressive supranuclear palsy (Anagnostou et al, 2020) and Parkinson's disease (Otero-Millan et al, 2013), but unlike our findings in AN, they have not been proposed as a biomarker for these illnesses.…”

contrasting

confidence: 99%

A biomarker and endophenotype for anorexia nervosa?

Phillipou

Rossell

Gurvich

et al. 2021

Aust N Z J Psychiatry

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Objective: Recent research has suggested that a type of atypical eye movement, called square wave jerks, together with anxiety, may distinguish individuals with anorexia nervosa from those without anorexia nervosa and may represent a biomarker and endophenotype for the illness. The aim of this study was to identify the presence of this proposed marker in individuals currently with anorexia nervosa relative to healthy controls, and to identify the state independence and heritability of this putative marker by exploring whether it also exists in individuals who are weight-restored from anorexia nervosa and first-degree relatives (i.e. sisters of people with anorexia nervosa). Methods: Data from 80 female participants (20/group: current anorexia nervosa, weight-restored from anorexia nervosa, sisters of people with anorexia nervosa and healthy controls) were analysed. Square wave jerk rate was acquired during a fixation task, and anxiety was measured with the State Trait Anxiety Inventory. Results: Current anorexia nervosa, weight-restored from anorexia nervosa and sisters of people with anorexia nervosa groups made significantly more square wave jerks than healthy controls, but did not differ from one another. Square wave jerk rate and anxiety were found to discriminate groups with exceptionally high accuracy (current anorexia nervosa vs healthy control = 92.5%; weight-restored from anorexia nervosa vs healthy control = 77.5%; sisters of people with anorexia nervosa vs healthy control = 77.5%; p < .001). Conclusion: The combination of square wave jerk rate and anxiety was found to be a promising two-element marker for anorexia nervosa, and has the potential to be used as a biomarker or endophenotype to identify people at risk of anorexia nervosa and inform future treatments.

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confidence: 99%

A biomarker and endophenotype for anorexia nervosa?

Phillipou

Rossell

Gurvich

et al. 2021

Aust N Z J Psychiatry

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“…Previous studies have reached a similar conclusion [6,14] , but we subsequently conducted subgroup analyses and found that square-wave jerks were more common in ALS patients with bulbar involvement than in ALS patients without bulbar involvement. The genesis of square-wave jerks remains uncertain, and our present ndings are supported by the "brainstem hypothesis" of square-wave jerk generation [33] . This theory, based on the model of Otero-Millan et al [34] , assumes the presence of a disturbance in the brainstem neural circuits.…”

Section: Discussionsupporting

confidence: 79%

Eye Movement Abnormalities in Amyotrophic Lateral Sclerosis

Guo

Liu

et al. 2021

Preprint

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Background and Purpose It is generally believed that eye movements are completely spared in amyotrophic lateral sclerosis (ALS). Although a series of eye movement abnormalities has been recognized in recent years, the findings are highly controversial, and the corresponding pattern has not yet been established. Furthermore, bulbar disabilities should be considered in relation to eye movement abnormalities. The present study aimed to determine whether eye movement abnormalities are present in ALS and, if so, to investigate their characteristics and their association with bulbar disability in ALS patients. Methods Patients with clinically definite, probable or laboratory-supported probable ALS (n=60) and a control group composed of their caregivers (n=30) underwent clinical assessments and standardized evaluations of the oculomotor system using videonystagmography. The gaze test, reflexive saccade test and smooth pursuit test were administered to all subjects. Results Eye movement abnormalities such as square-wave jerks, abnormal cogwheeling during smooth pursuit, and saccade hypometria were observed in ALS patients. Square-wave jerks (p<0.001) and abnormal cogwheeling during smooth pursuit (p=0.001) were more frequently observed in ALS patients than in the control subjects. In subgroup analyses, square-wave jerks (p=0.004) and abnormal cogwheeling during smooth pursuit (p=0.031) were found to be more common in ALS patients with bulbar involvement (n=44) than in those without bulbar involvement (n=16). There were no significant differences in the investigated eye movement parameters between bulbar-onset (n=12) and spinal-onset patients (n=48). Conclusion ALS patients showed a range of eye movement abnormalities, affecting mainly the ocular fixation and smooth pursuit systems. These abnormalities were observed more common in the ALS patients with bulbar involvement. Our pioneering study indicates that the region of involvement could better indicate the pathophysiological essence of the abnormalities than the type of onset pattern in ALS. Eye movement abnormalities may be potential clinical markers for objectively evaluating upper brainstem or supratentorial cerebral lesion neurodegeneration in ALS.

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“…It was hypothesized that atrophy of temporal cortical structures may lead to overactivity of the superior colliculus, leading to increased activity of excitatory burst neurons and less input to omnipause neurons in the brainstem. In reference to neuropathological characteristics of anti-IgLON5 disease, in which subcortical pTau deposits were found, with isolated tau pathology in the temporal cortex only, this could also explain the presence of SWJ in patients with PSP in which tau pathology is found more prominently over the course of the disease ( 4 , 23 , 26 ). SWJ were observed in 9/10 patients with PSP, but in none of our patients with anti-IgLON5 disease.…”

Section: Discussionmentioning

confidence: 99%

Ocular Motor Abnormalities in Anti-IgLON5 Disease

et al. 2021

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ObjectiveAnti-IgLON5 disease forms an interface between neuroinflammation and neurodegeneration and includes clinical phenotypes that are often similar to those of neurodegenerative diseases. An early diagnosis of patients with anti-IgLON5 disease and differentiation from neurodegenerative diseases is necessary and may have therapeutic implications.MethodsIn our small sample size study we investigated oculomotor function as a differentiating factor between anti-IgLON5 disease and neurodegenerative disorders. We examined ocular motor and vestibular function in four patients suffering from anti-IgLON5 disease using video-oculography (VOG) and a computer-controlled rotational chair system (sampling rate 60 Hz) and compared the data with those from ten age-matched patients suffering from progressive supranuclear palsy (PSP) and healthy controls (CON).ResultsPatients suffering from anti-IgLON5 disease differed from PSP most strikingly in terms of saccade velocity and accuracy, the presence of square wave jerks (SWJ) (anti-IgLON5 0/4 vs. PSP 9/10) and the clinical finding of supranuclear gaze palsy (anti-IgLON5 1/4). The presence of nystagmus, analysis of smooth pursuit eye movements, VOR and VOR suppression was reliable to differentiate between the two disease entities. Clear differences in all parameters, although not always significant, were found between all patients and CON.DiscussionWe conclude that the use of VOG as a tool for clinical neurophysiological assessment can be helpful in differentiating between patients with PSP and patients with anti-IgLON5 disease. VOG could have particular value in patients with suspected PSP and lack of typical Parkinson’s characteristics. future trials are indispensable to assess the potential of oculomotor function as a biomarker in anti-IgLON5 disease.

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A Cortical Substrate for Square-Wave Jerks in Progressive Supranuclear Palsy

Cited by 17 publications

References 49 publications

A biomarker and endophenotype for anorexia nervosa?

A biomarker and endophenotype for anorexia nervosa?

Eye Movement Abnormalities in Amyotrophic Lateral Sclerosis

Ocular Motor Abnormalities in Anti-IgLON5 Disease

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