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INTRODUCTION: Visual search impairment is a potential cognitive marker for Alzheimer's disease (AD) and amnestic mild cognitive impairment (aMCI). The aim of this study is to compare eye movements during visual tracking in AD and aMCI patients versus healthy controls (HCs). METHODS: A prospective cohort study included 32 AD and 37 aMCI patients, and 33 HCs. Each participant was asked to look at the target object in a visual stimulus containing one target and eight distractors, and eye movements were recorded with EyeLink 1000 Plus. RESULTS: AD patients had fewer fixations and shorter target fixation duration than aMCI patients and HCs. Fixation durations were also shorter in aMCI patients compared to HCs. Also, AD patients were more fixated on distractors than HCs. DISCUSSION: Our findings revealed that visual search is impaired in the early stages of AD and even aMCI, highlighting the importance of addressing visual processes in the Alzheimer's continuum. HIGHLIGHTS: AD patients looked to distractors more and longer than the target compared to aMCI patients and older healthy individuals. aMCI patients had an impaired visual search pattern compared to healthy controls, just like patients with AD. The visual search task differentiated AD and aMCI patients from healthy individuals without dementia.
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Enfermedad de Alzheimer , Disfunción Cognitiva , Humanos , Enfermedad de Alzheimer/psicología , Estudios Prospectivos , Tecnología de Seguimiento Ocular , Pruebas Neuropsicológicas , Disfunción Cognitiva/psicologíaRESUMEN
Meniere's disease is an otological disease characterized by various symptoms that include episodic peripheral vertigo, sensorineural hearing loss, tinnitus, and aural fullness, all of which deteriorate the maintenance of daily activities. We aimed to investigate cognitive function in Meniere's disease patients and compare their results to those of healthy controls. Eighteen patients diagnosed with definite Meniere's disease without any psychiatric, neurological or otological comorbidity, and 30 healthy controls with normal cognitive functions were included in the study. General cognitive status, attention, verbal memory, visual memory, executive and visuospatial function were measured by detailed neuropsychological tests in both groups. In the patients with Meniere's disease, pure-tone hearing thresholds, and speech discrimination scores were also measured. Patients with Meniere's disease showed lower levels of performance in the trail making test, Oktem verbal memory processes, Rey Complex Figure Test, Wisconsin Card Sorting Test, semantic and phonemic fluency than did healthy controls. In other words, there were deficits in attention, recognition and recall in verbal memory, recall in visual memory, visual spatial construction, and planning skills in patients with Meniere's disease. Education years and depression scores of participants had a significant effect on cognitive function in all groups. This study is an update and confirmation of the findings of studies showing cognitive impairment in patients with Meniere's disease. In addition to previous findings, this study found a decrease in executive function performance in patients with Meniere's disease compared to healthy controls. Unlike previous studies, this study comprehensively addressed all cognitive functions and included a control group. Our results emphasize that executive functions, which are high-level cognitive processes, may affect the compliance of patients with Meniere's disease treatment and follow-up processes.
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Pérdida Auditiva Sensorineural , Enfermedad de Meniere , Acúfeno , Humanos , Enfermedad de Meniere/diagnóstico , Enfermedad de Meniere/terapia , Vértigo/diagnóstico , Acúfeno/diagnóstico , Pérdida Auditiva Sensorineural/epidemiología , Pérdida Auditiva Sensorineural/diagnóstico , CogniciónRESUMEN
A woman, age 44, with a positive anti-YO paraneoplastic cerebellar syndrome and normal imaging developed an ocular motor disorder including periodic alternating nystagmus (PAN), gaze-evoked nystagmus (GEN) and rebound nystagmus (RN). During fixation there was typical PAN but changes in gaze position evoked complex, time-varying oscillations of GEN and RN. To unravel the pathophysiology of this unusual pattern of nystagmus, we developed a mathematical model of normal function of the circuits mediating the vestibular-ocular reflex and gaze-holding including their adaptive mechanisms. Simulations showed that all the findings of our patient could be explained by two, small, isolated changes in cerebellar circuits: reducing the time constant of the gaze-holding integrator, producing GEN and RN, and increasing the gain of the vestibular velocity-storage positive feedback loop, producing PAN. We conclude that the gaze- and time-varying pattern of nystagmus in our patient can be accounted for by superposition of one model that produces typical PAN and another model that produces typical GEN and RN, without requiring a new oscillator in the gaze-holding system or a more complex, nonlinear interaction between the two models. This analysis suggest a strategy for uncovering gaze-evoked and rebound nystagmus in the setting of a time-varying nystagmus such as PAN. Our results are also consistent with current ideas of compartmentalization of cerebellar functions for the control of the vestibular velocity-storage mechanism (nodulus and ventral uvula) and for holding horizontal gaze steady (the flocculus and tonsil).
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Enfermedades Cerebelosas , Nistagmo Patológico , Adulto , Enfermedades Cerebelosas/complicaciones , Cerebelo , Movimientos Oculares , Femenino , Humanos , Modelos NeurológicosRESUMEN
There is growing interest in how social processes and behaviour might be affected in Parkinson's disease. A task which has been widely used to assess how people orient attention in response to social cues is the spatial cueing task. Socially relevant directional cues, such as a picture of someone gazing or pointing to the left or the right have been shown to cause orienting of visual attention in the cued direction. The basal ganglia may play a role in responding to such directional cues, but no studies to date have examined whether similar social cueing effects are seen in people with Parkinson's disease. In this study, patients and healthy controls completed a prosaccade (Experiment 1) and an antisaccade task (Experiment 2) in which the target was preceded by arrow, eye gaze or pointing finger cues. Patients showed increased errors and response times for antisaccades but not prosaccades. Healthy participants made most anticipatory errors on pointing finger cue trials, but Parkinson's patients were equally affected by arrow, eye gaze and pointing cues. It is concluded that Parkinson's patients have a reduced ability to suppress responding to directional cues, but this effect is not specific to social cues.
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Señales (Psicología) , Enfermedad de Parkinson , Fijación Ocular , Humanos , Tiempo de Reacción , Movimientos SacádicosRESUMEN
Alzheimer's disease (AD) dementia is a degenerative illness that is characterized by a gradual decline in cognitive abilities. Amnestic mild cognitive impairment (aMCI) is seen as a precursor to AD. The changes in antisaccade performance that can be seen in MCI may provide important clues in the early detection of AD. Therefore, the antisaccade deficits in AD and aMCI remain a research question. This study aimed to examine antisaccade responses and the relationship between antisaccade and cognitive function in AD, aMCI, and healthy controls (HC). This study included 30 patients with early-stage AD, 34 with aMCI, and 32 HC. Patients with AD showed higher rates of uncorrected error, anticipatory saccades and corrected errors, as well as decreased correct saccade rates, and shortened saccade latency compared to aMCI and HC in this study. Patients with aMCI exhibited increased rates of express saccades relative to HC. The antisaccade task and cognitive domains were found to be significantly related. Our study showed that the rate of correct saccades has the capacity to distinguish AD from HC with 87% sensitivity and 86% specificity (AUC = 0.93, p < 0.001). In addition, the rate of uncorrected errors was found to be capable of distinguishing AD from HC with 84% sensitivity and 83% specificity (AUC = 0.91, p < 0.001). This study presented promising findings that these parameters can be used clinically to differentiate AD and aMCI from healthy older individuals.
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Enfermedad de Alzheimer , Disfunción Cognitiva , Humanos , Movimientos Sacádicos , Enfermedad de Alzheimer/psicología , Pruebas Neuropsicológicas , Disfunción Cognitiva/diagnóstico , EnvejecimientoRESUMEN
BACKGROUND: Visual attention-related processes that underlie visual search behavior are impaired in both the early stages of Alzheimer's disease (AD) and amnestic mild cognitive impairment (aMCI), which is considered a risk factor for AD. Although traditional computer-based array tasks have been used to investigate visual search, information on the visual search patterns of AD and MCI patients in real-world environments is limited. AIM: The objective of this study was to evaluate the differences in visual search behaviors among individuals with AD, aMCI, and healthy controls (HCs) in real-world scenes. MATERIALS AND METHODS: A total of 92 participants were enrolled, including 28 with AD, 32 with aMCI, and 32 HCs. During the visual search task, participants were instructed to look at a single target object amid distractors, and their eye movements were recorded. RESULTS: The results indicate that patients with AD made more fixations on distractors and fewer fixations on the target, compared to patients with aMCI and HC groups. Additionally, AD patients had longer fixation durations on distractors and spent less time looking at the target than both patients with aMCI and HCs. DISCUSSION: These findings suggest that visual search behavior is impaired in patients with AD and can be distinguished from aMCI and healthy individuals. For future studies, it is important to longitudinally monitor visual search behavior in the progression from aMCI to AD. CONCLUSION: Our study holds significance in elucidating the interplay between impairments in attention, visual processes, and other underlying cognitive processes, which contribute to the functional decline observed in individuals with AD and aMCI.
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Enfermedad de Alzheimer , Atención , Disfunción Cognitiva , Percepción Visual , Humanos , Enfermedad de Alzheimer/fisiopatología , Disfunción Cognitiva/fisiopatología , Femenino , Masculino , Anciano , Atención/fisiología , Percepción Visual/fisiología , Amnesia/fisiopatología , Movimientos Oculares/fisiología , Anciano de 80 o más Años , Persona de Mediana EdadRESUMEN
BACKGROUND: Vestibular Migraine (VM) is a frequent cause of recurrent spontaneous vertigo. While some report a normal Video Head Impulse Test (vHIT) in VM, others observed abnormal results on this test. Whether or not methodological discrepancies could be the cause of these differences is not known. There are 2 vHIT methods: subjects fixating an earth-fixed target (HIMP paradigm) or a head-fixed target, the suppression head impulse test (SHIMP paradigm). OBJECTIVES: The present study aimed to compare VM patients against healthy controls on both HIMP and SHIMP in order to unravel any differences between them. METHODS: Forty-eight VM patients and 27 healthy controls tested with both the HIMP and SHIMP paradigm. Results: Our 48 VM patients showed mean VOR normal range gains in both the HIMP and SHIMP paradigms, although there were some VOR impairments in individual semicircular SCCs. VM patients with motion sickness had lower horizontal VOR gain than those without motion sickness, with the HIMP, but not the SHIMP paradigm. CONCLUSION: VM patients have normal VOR gain with either vHIT paradigm. SIGNIFICANCE: The clinical significance of this observation is that a definitely abnormal vHIT with either method is unlikely to be due to vestibular migraine and an alternative diagnosis should be sought.
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Trastornos Migrañosos , Mareo por Movimiento , Humanos , Prueba de Impulso Cefálico/métodos , Reflejo Vestibuloocular , Vértigo/diagnóstico , Vértigo/etiología , Mareo , Trastornos Migrañosos/diagnóstico , Canales SemicircularesRESUMEN
Saccadic eye movements are one of the sensitive and noninvasive methods to help monitor the cognitive course of mild cognitive impairment (MCI). The study aimed to evaluate both pro and anti-saccade longitudinally and the relationship between cognitive functions and eye movements in MCI subgroups and healthy controls (HCs) at a two-year follow-up. This study revealed that the anti-saccade anticipatory responses decreased in amnestic MCI (aMCI). Correct vertical pro-saccades increased in non-amnestic MCI (naMCI), while the express saccades decreased. Our study demonstrated that longer than two years of follow-up is necessary to monitor the course of MCI. Findings of the relationships between longitudinal changes of saccades and cognitive measurements demonstrated the usability of eye movements in evaluating the process of MCI.
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Disfunción Cognitiva , Movimientos Sacádicos , Humanos , Estudios Longitudinales , Disfunción Cognitiva/psicología , Pruebas NeuropsicológicasRESUMEN
BACKGROUND: Alzheimer's disease (AD) neuropathology affects the brain regions responsible for visuospatial skills. Accumulating evidence points to visual difficulties involving face processing in AD and amnestic mild cognitive impairment (aMCI). No study has so far examined eye movement patterns when viewing faces with neutral expressions in patients with AD. AIM: The objective of this study aimed to examine the eye movements of patients with early-stage AD, aMCI, and healthy controls (HC) during viewing face images. MATERIALS&METHODS: Thirty-one AD, 37 aMCI, and 33 HC were included in the study. Eye movements in facial stimuli were recorded with the EyeLink 1000 Plus eye-tracker. RESULTS: Our findings showed that AD patients looked less at the eye area of interest than the nose and mouth areas of interest compared to aMCI and HC. Regardless of the group, all participants looked at the eye and nose areas of interest more and longer in the mouth area of interest. In addition, the first fixation duration to the eye area of interest of all participants was shorter than that of the nose and mouth. DISCUSSION: Consistent with our study, studies in healthy adults revealed eye movement patterns that focused more on the eyes and nose. AD patients are unable to pay attention to the salient parts of faces, tending to focus instead on the non-informative parts. CONCLUSION: Our study is the first to reveal eye movement differences in face processing in AD.
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Enfermedad de Alzheimer , Disfunción Cognitiva , Reconocimiento Facial , Adulto , Humanos , Movimientos Oculares , Enfermedad de Alzheimer/diagnóstico por imagen , Enfermedad de Alzheimer/psicología , Disfunción Cognitiva/psicología , Encéfalo , Pruebas NeuropsicológicasRESUMEN
Available evidence shows that Alzheimer's disease (AD) patients display inefficiencies in visual scanning of their surroundings, directing their attention towards non-relevant aspects of scenes. Not much is known about eye movements during visual scanning in individuals with amnestic mild cognitive impairment (aMCI). Notably, a consensus has yet to be reached on this issue. Furthermore, prior research has indicated the existence of visual attention deficits in individuals diagnosed with AD and aMCI. The objective of this study was to examine the visual scanning patterns of individuals diagnosed with AD, aMCI, and healthy controls (HC) when viewing various scenes. Thirty patients with AD, 32 aMCI, and 32 HC were included in the study. A set of 30 real-life scene images were presented to the participants in the visual scanning task. Participants' eye events were monitored using the EyeLink 1000 Plus in this task. The results indicate a significant reduction in total fixation duration, number of scanned areas, fixation counts, and saccade counts in AD as compared to those with aMCI and HC. The research did not reveal any significant statistical differences in eye parameters between the aMCI and HC groups. This study found abnormalities in visual scanning in AD compared to aMCI and HC. Visual scanning patterns of aMCI patients were not different from HC. Previous studies have specifically shown visual attention difficulties in AD and MCI. Our findings may be related to visual attention difficulties in AD. In addition, this study is the first to examine visual scanning behaviour with real-world images in AD and aMCI.
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Enfermedad de Alzheimer , Disfunción Cognitiva , Humanos , Enfermedad de Alzheimer/diagnóstico por imagen , Movimientos Oculares , Disfunción Cognitiva/diagnóstico por imagen , Movimientos Sacádicos , Pruebas NeuropsicológicasRESUMEN
BACKGROUND: Ultra-high-risk for bipolar disorder (UHR-BD) is an important paradigm to investigate the potential early-stage biomarkers of bipolar disorder, including eye-tracking abnormalities and cognitive functions. Antisaccade (AS) described as looking in the opposite direction of the target, and memory-guided saccade (MGS), identified as maintaining fixation, and remembering the location of the target, were used in this study. The aim of this study was to evaluate the differences in saccadic eye movements between UHR-BD and healthy controls (HCs) via AS-MGS. METHODS: The study included 28 UHR-BD and 29 HCs. Participants were selected using a structured clinical interview for prodromal symptoms of BD. AS-MGS were measured with parameters like uncorrected errors, anticipatory saccades, and latency. Eye movements were recorded with the EyeLink 1000-Plus eye-tracker. RESULTS: In the AS, the number of correct saccades was significantly decreased in UHR-BD (p = 0.020). Anticipatory (p = 0.009) and express saccades (p = 0.040) were increased in UHR-BD. In the MGS paradigm, the correct saccades were reduced in UHR-BD (p = 0.031). In addition, anticipatory (p = 0.004) and express saccades (p = 0.012) were significantly increased in cue-screen in UHR-BD. CONCLUSIONS: To our knowledge, this is the first study to evaluate cognitive functions with eye movements in individuals at UHR-BD. The current findings showed that eye movement functions, particularly in saccadic parameters related to inhibition and spatial perception, may be affected in the UHR-BD group. Therefore, assessment of oculomotor functions may provide observation of clinical and cognitive functions in the early-stage of bipolar disorder. However, further research is needed because the potential effects of medication may affect saccadic results.
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Trastorno Bipolar , Humanos , Trastorno Bipolar/diagnóstico , Trastorno Bipolar/tratamiento farmacológico , Trastorno Bipolar/psicología , Movimientos Sacádicos , Cognición , Recuerdo Mental , Inhibición Psicológica , Tiempo de Reacción/fisiologíaRESUMEN
BACKGROUND: Vestibular migraine (VM) is one of the most common causes of vertigo in clinical practice but it is not always easy to make the correct diagnosis. Our aims were to find out how VM patients differ from migraine only (MO) patients, to evaluate co-morbid depression in these two groups and to determine if their disease has an effect on their quality of life. METHODS: We studied 50 definite VM and 35 MO patients. Each patient was asked about: age of onset, duration of headaches, presence of aura, headache characteristics, triggering factors, associated features, motion sickness history and family history of migraine. VM patients were also asked about their vertigo attacks and accompanying symptoms. Each patient also completed the following questionnaires: (1) Migraine Disability Assessment Scale (MIDAS); (2) headache severity with VAS (Visual Analog Scale); (3) Allodynia Symptom Checklist (ASC-12); (4) Beck Depression Inventory (BDI); (5) World Health Organization Quality of Life Questionnaire Short Form-12 (WHOQL-SF12); (6) Activities Specific Balance Confidence Scale (ABC). VM patients also completed the Dizziness Handicap Inventory (DHI). RESULTS: We found that VM patients were more likely than MO patients to be female, post-menopausal, depressed, motion sick, complaining of imbalance and of food-triggered headaches. In contrast, MO patients were more likely than VM patients to have severe headaches and that these can be triggered by certain odors and by noise. CONCLUSION: Our findings showed differences between VM and MO patients and attention to these differences could help clinicians diagnose, characterize and manage their VM patients.
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Trastornos Migrañosos , Enfermedades Vestibulares , Mareo , Femenino , Humanos , Trastornos Migrañosos/complicaciones , Trastornos Migrañosos/diagnóstico , Trastornos Migrañosos/epidemiología , Calidad de Vida , Vértigo/diagnóstico , Vértigo/epidemiología , Enfermedades Vestibulares/complicaciones , Enfermedades Vestibulares/diagnóstico , Enfermedades Vestibulares/epidemiologíaRESUMEN
INTRODUCTION: Prosaccade task is a widely used objective method to evaluate reflexive saccade and visual attention. The study aimed to investigate prosaccade stimulus eccentricity, compare prosaccade parameters in patients with Alzheimer's disease dementia (AD), amnestic mild cognitive impairment (aMCI), and neurotypical adults (NA), and examine the relationship between prosaccade and neuropsychological tests. METHODS: Thirty patients with AD, 34 with aMCI, and 32 NA were included in the study. Eye movements were recorded with the EyeLink 1000 Plus in the prosaccade task, and this study evaluated cognitive function with comprehensive neuropsychological tests assessing attention, memory, executive function, visuospatial function, and language domains. RESULTS: The correct saccade rates of patients with AD were significantly lower than NA in the 5° and 10° stimulus eccentricities. Patients with AD had significantly longer latencies in the 10° stimulus eccentricity than those with aMCI and NA. Patients with aMCI did not differ in prosaccade performance compared to NA. Prosaccade parameters were significantly correlated with all cognitive domains. As the amplitude of the stimuli increased, the rate of correct saccades decreased, while the express saccade rate, latency, amplitude, and peak velocity increased. CONCLUSION: Our findings that correct saccade rates and latency may be distinguishing parameters of early AD are promising. This study also found that stimulus eccentricity affects prosaccade measures in AD, MCI, and NA.
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Enfermedad de Alzheimer , Disfunción Cognitiva , Adulto , Humanos , Enfermedad de Alzheimer/psicología , Disfunción Cognitiva/psicología , Cognición , Movimientos Oculares , Movimientos Sacádicos , Pruebas NeuropsicológicasRESUMEN
Periodic alternating nystagmus (PAN) is a rare oscillatory ocular motor disorder. The effects of gravity on the dynamic behavior of PAN can be studied by monitoring the nystagmus while changing head orientation. Previous studies of patients with PAN reached different conclusions about the effect of changing the orientation of the head relative to gravity on the ongoing PAN, either no effect or a damping of the nystagmus within several minutes. What neuronal circuits could account for the difference in the effects of gravity among PAN patients? We modeled how the brain resolves the tilt-translation ambiguity in normal individuals and added an unstable, oscillatory vestibular system generating PAN. PAN was suppressed in our patient in ear-down positions, in a similar pattern to that of a previously reported patient. This effect was simulated by reducing the gain of the projection of the "rotation feedback" loop to the velocity-storage integrator to approximately 5% of its normal value. With normal "rotation feedback" PAN is expected to dissipate quickly as soon as the head is rotated away from upright position. Moreover, by disconnecting the rotation feedback completely (gain = zero) the model simulated PAN that was reported to be unaffected by gravity. Thus, understanding the effect of this single parameter, the gain of the rotation feedback, can explain the observed variability among our own and previous studies.
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Nistagmo Patológico , Nistagmo Fisiológico , Humanos , Nistagmo Patológico/etiología , Gravitación , Rotación , Cabeza , Reflejo Vestibuloocular/fisiologíaRESUMEN
Introduction: Mild cognitive impairment (MCI) is known to be heterogeneous in its cognitive features and course of progression. Whilst memory impairment is characteristic of amnestic MCI (aMCI), cognitive deficits other than memory can occur in both aMCI and non-amnestic MCI (naMCI) and accurate assessment of the subtypes of MCI is difficult for clinicians without the application of extensive neuropsychological testing. In this study, we examine metrics derived from recording of reflexive and voluntary saccadic eye movements as a potential alternative method for discriminating between subtypes and assessing cognitive functions in MCI.Method: A total of 29 MCI patients and 29 age- and education-matched healthy controls (HCs) participated in the cross-sectional study. We recorded horizontal and vertical pro-saccades and anti-saccade responses. All the participants also completed a comprehensive neuropsychological tests battery.Results: Significant differences in saccadic eye movement were found between the subtypes of MCI and HCs. Patients with aMCI had a higher percentage of short latency "express" saccades than HCs. We found strong associations between saccadic reaction times and cognitive domains, including executive functions and attention. The mini-mental state examination (MMSE) was also found to correlate with uncorrected errors in the anti-saccade task.Conclusions: The increased proportion of saccades in the express latency range in aMCI may be indicative of problems with cognitive inhibitory control in these patients. A focus on this and other saccade metrics in the preclinical and prodromal stages of dementia may help to predict the clinical progression of the disease and direct interventions for the management of MCI. The clinical significance of saccadic eye movement impairments in MCI is not yet fully understood and should be investigated in further studies using larger samples.
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Disfunción Cognitiva , Movimientos Sacádicos , Disfunción Cognitiva/complicaciones , Estudios Transversales , Función Ejecutiva , Humanos , Pruebas NeuropsicológicasRESUMEN
OBJECTIVE: To find out if Charcot-Marie-Tooth (CMT) patients, who have peripheral vestibular as well as peripheral somatosensory impairment, have worse postural balance than those who do not. METHODS: We studied 32 patients with various CMT phenotypes and genotypes. Vestibular function was measured with the video head impulse test (vHIT) which tests vestibulo-ocular reflex (VOR) gain from each of the six semicircular canals in response to rapid head rotations. Postural balance was evaluated with a battery of four postural tests with emphasis on the modified clinical test of sensory integration in balance (mCTSIB). RESULTS: Half of the 32 patients had some impairment of vestibular function ranging from mild, affecting only 1-2 semicircular canals, to almost total affecting all 6 semicircular canals. Their mCTSIB scores correlated with VOR gain from the vertical rather than from the lateral semicircular canals. The worse the vertical VOR gain the worse the mCTSIB score. CONCLUSION: We propose that any CMT patient could have clinically inapparent vestibular impairment that can be easily measured with the vHIT. This vestibular impairment could be contributing to their imbalance and could respond to a focused vestibular rehabilitation program.
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Enfermedad de Charcot-Marie-Tooth , Vestíbulo del Laberinto , Enfermedad de Charcot-Marie-Tooth/complicaciones , Enfermedad de Charcot-Marie-Tooth/genética , Prueba de Impulso Cefálico , Humanos , Reflejo Vestibuloocular , Canales SemicircularesRESUMEN
PURPOSE OF REVIEW: To report the findings in 12 members over 3 generations of a family with dominantly inherited Charcot-Marie-Tooth disease (CMT1B) due to a novel MPZ mutation, who all had moderately severe selective impairment of vestibular function with normal hearing. Methods used were video head impulse testing of the function of all 6 semicircular canals, Romberg test on foam, nerve conduction studies, and whole exome and Sanger sequencing. RECENT FINDINGS: All affected patients had a demyelinating neuropathy and a novel MPZ mutation: c.362A>G (chr1: 161276584, p.D121G). All also had normal hearing for age but a moderately severe impairment of semicircular canal function and a positive Romberg test on foam. SUMMARY: Some CMT mutations can impair vestibular function, presumably because of a vestibular nerve involvement but spare hearing. In such patients, impairment of vestibular function and impairment of proprioception contribute to imbalance.
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Chronic inflammatory demyelinating polyneuropathy (CIDP) is a common, treatable, autoimmune peripheral neuropathy considered to produce imbalance by weakness and proprioceptive impairment rather than vestibular impairment. We measured semicircular canal vestibular function in 21 CIDP patients (15M/6F) by the video head impulse test and postural stability with a battery comprising the modified Clinical Test of Sensory Integration and Balance, the Berg Balance Scale, the Dynamic Gait Index, the Fall Efficiency Scale, and the International Cooperative Ataxia Rating Scale. Of the 21 patients, 16 had vestibular impairment, ranging from mild-affecting just a single semicircular canal, to severe-affecting all 6 canals. Although the severity of the vestibular impairment did not correlate either with the severity of the postural imbalance or of the peripheral neuropathy, our data show that vestibular impairment is an additional challenge to balance that some CIDP patients will face.