Publications by authors named "Colnaghi S"

Objectives: Catch-up saccades help to compensate for loss of gaze stabilization during rapid head rotation in case of vestibular deficit. While overt saccades observed after head rotation are obviously visually guided, some of these catch-up saccades occur with shorter latency while the head is still moving, anticipating the needed final eye position. These covert saccades seem to be generated based on the integration of multisensory inputs.

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Antibodies against the neuronal protein Ma2 have been reported in a peculiar form of paraneoplastic encephalitis with prominent involvement of the limbic, brainstem, and diencephalic structures and usually associated with germ cell testicular, lung, or breast cancer. The diagnosis is frequently challenged by atypical clinical manifestations including parkinsonism, sleep disturbances, hypothalamic-pituitary dysfunctions, and motor neuron-like syndrome. In recent years, the advent of monoclonal antibodies targeting immune checkpoints has deeply changed the treatment of different tumors, especially melanoma and lung cancer.

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Background: Myasthenia gravis (MG) is an autoimmune disease that targets acetylcholine receptor (AChR) of the neuromuscular junction. New-onset MG after SARS-CoV-2 vaccination has rarely been reported.

Case Presentation: We report about three patients who presented new-onset myasthenia gravis after receiving mRNA SARS-CoV-2 vaccination.

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Study Objectives: To evaluate neurophysiological alterations of visual function in idiopathic REM sleep Behavior Disorder (iRBD) both as markers and predictors of neurodegenerative disorders.

Methods: In a longitudinal follow-up study of 46 consecutive iRBD patients (follow-up duration 8.4 ± 3.

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Article Synopsis
  • About one-third of patients with polyneuropathy are undiagnosed and categorized as having chronic idiopathic axonal polyneuropathy, a slowly progressive condition of unknown cause.
  • A study examining 225 patients identified that 34% of those with sensory neuropathy had biallelic RFC1 expansions, suggesting a possible connection between RFC1 mutations and this type of neuropathy.
  • Most RFC1-positive patients experienced isolated sensory neuropathy with varying degrees of sensory impairment, while many previously received incorrect diagnoses such as Sjögren's syndrome or chronic inflammatory demyelinating polyneuropathy.
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Background: Vestibular migraine (VM) is a relatively recently acknowledged vestibular syndrome with a very relevant prevalence of about 10% among patients complaining of vertigo. The diagnostic criteria for VM have been recently published by the Bárány Society, and they are now included in the latest version of the International Classification of Headache Disorders, yet there is no instrumental test that supports the diagnosis of VM.

Objective: In the hypothesis that the integration of different vestibular stimuli is functionally impaired in VM, we tested whether the combination of abrupt vestibular stimuli and full-field, moving visual stimuli would challenge vestibular migraine patients more than controls and other non-vestibular migraineurs.

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Article Synopsis
  • Ataxia is a condition that makes people feel unbalanced and dizzy, leading to falls, and is a major reason for disability related to the nervous system.
  • Researchers found a specific genetic change in a gene called RFC1 that causes a type of ataxia known as CANVAS, which affects movement and balance, especially in older people.
  • In a study of 100 people with this genetic change, symptoms often started around age 60, with many experiencing a cough and balance problems, and over time, some needed walking aids or wheelchairs.
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Objectives: The video head impulse test (vHIT) provides as output a gain value that summarizes the behavior of the vestibulo-ocular reflex as the ratio of a measure of eye movement to the corresponding measure of head movement and is not directly informative of the functional effectiveness of the motor response. The functional HIT (fHIT) is based on the ability to recognize the orientation of a Landolt C optotype that briefly appears on a computer screen during passive head impulses imposed by the examiner over a range of head accelerations; accordingly fHIT is a functional measurement of the vestibular-ocular reflex since it measures the capability to keep clear vision and to read during head movement.

Methods: We compared the results of the fHIT with those of the vHIT and the results of the Dizziness Handicap Inventory (DHI) questionnaire in a group of 27 vestibular neuritis patients recorded acutely and at 3-months follow-up.

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Prior to gait initiation (GI), anticipatory postural adjustments (GI-APA) are activated in order to reorganize posture, favorably for gait. In healthy subjects, the center of pressure (CoP) is displaced backward during GI-APA, bilaterally by reducing soleus activities and activating the tibialis anterior (TA) muscles, and laterally in the direction of the leading leg, by activating hip abductors. In post-stroke hemiparetic patients, TA, soleus and hip abductor activities are impaired on the paretic side.

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The functional head impulse test is a new test of vestibular function based on the ability to recognize the orientation of a Landolt C optotype that briefly appears on a computer screen during passive head impulses imposed by the examiner over a range of head accelerations. Here, we compare its results with those of the video head impulse test on a population of vestibular neuritis patients recorded acutely and after 3 months from symptoms onset. The preliminary results presented here show that while both tests are able to identify the affected labyrinth and to show a recovery of vestibular functionality at 3 months, the two tests are not redundant, but complementary.

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Objective: Mesial temporal lobe epilepsy with hippocampal sclerosis (MTLE-HS) may involve extrahippocampal areas of structural damage and dysfunction. The accuracy of medium-term spatial memory can be tested by memory-guided saccades (MGS) to evaluate a functional impairment of the parahippocampal cortex (PHC), while voxel-based morphometry (VBM) analysis can be used to detect a structural damage of the latter region.

Methods: MGS with 3- and 30-s memorization delays were compared between 7 patients affected by right MTLE-HS (r-MTLE-HS), 6 patients affected by left MTLE-HS, and 13 healthy controls.

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Neurophysiological measurements of the vestibular function for diagnosis and follow-up evaluations provide an objective assessment, which, unfortunately, does not necessarily correlate with the patients' self-feeling. The literature provides many questionnaires to assess the outcome of rehabilitation programs for disequilibrium, but only for the Dizziness Handicap Inventory (DHI) is an Italian translation available, validated on a small group of patients suffering from a peripheral acute vertigo. We translated and validated the reliability and validity of the DHI, the Situational Vertigo Questionnaire (SVQ), and the Activities-Specific Balance Confidence Scale (ABC) in 316 Italian patients complaining of dizziness due either to a peripheral or to a central vestibular deficit, or in whom vestibular signs were undetectable by means of instrumental testing or clinical evaluation.

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Rigid ankle-foot orthoses (AFO) are commonly used for impeding foot drop during the swing phase of gait. They also reduce pain and improve gait kinematics in patients with weakness or loss of integrity of ankle-foot complex structures due to various pathological conditions. However, this comes at the price of constraining ankle joint mobility, which might affect propulsive force generation and balance control.

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Background: Saccade pulse amplitude adaptation is mediated by the dorsal cerebellar vermis and fastigial nucleus. Long-term depression at the parallel fibre-Purkinjie cell synapses has been suggested to provide a cellular mechanism for the corresponding learning process. The mechanisms and sites of this plasticity, however, are still debated.

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In response to passive high-acceleration head impulses, patients with low vestibulo-ocular reflex (VOR) gains often produce covert (executed while the head is still moving) corrective saccades in the direction of deficient slow phases. Here we examined 23 patients using passive, and 9 also active, head impulses with acute (< 10 days from onset) unilateral vestibular neuritis and low VOR gains. We found that when corrective saccades are larger than 10°, the slow-phase component of the VOR is inhibited, even though inhibition increases further the time to reacquire the fixation target.

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The use of cerebellar repetitive transcranial magnetic stimulation has been attempted for perturbing reflexive and voluntary eye movements, but discrepancies are seen between the results of distinct studies possibly due to the different stimulation sites, intensities, and paradigms. We describe the after effects of 20 and 40 s continuous Theta Burst Stimulation (cTBS) as compared to sham stimulation, applied over the lateral cerebellar vermis and paravermis on Reflexive Saccades (RS) and Smooth Pursuit (SP) eye movements, recorded in the 30 min following stimulation. The experiments were carried out in eight healthy volunteers, and eye movements were recorded monocularly with video-oculography.

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Balance stability correlates with cerebellar vermis volume. Furthermore, the cerebellum is involved in precise timing of motor processes by fine-tuning the sensorimotor integration. We tested the hypothesis that any cerebellar action in stance control and in timing of visuomotor integration for balance is impaired by continuous theta-burst stimulation (cTBS) of the vermis.

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Background: The ocular vestibular myogenic potentials (oVEMP) can be elicited by monaural air-conducted sound stimulation, and are usually recorded from the contralateral eye. In clinical setting a binaural stimulation would save time and require less effort from the subjects.

Objective: We evaluated the differences between monaural and binaural stimulation, and the possible effect of age and gender on oVEMP parameters.

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The head impulse test (HIT) is nowadays recognized as the gold standard for clinical testing of the angular vestibulo-ocular reflex (VOR). By imposing unpredictable, abrupt head rotations in canal pairs' planes it aims at unveiling the dysfunction of the semicircular canal towards which the head is rotated based on Ewald's II law. Functional testing of the VOR aims at assessing the ability of the reflex to stabilize gaze in space and thus allow clear vision during head movements.

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Peripheral vestibular function may be tested quantitatively, by measuring the gain of the angular vestibulo-ocular reflex (aVOR), or functionally, by assessing how well the aVOR performs with respect to its goal of stabilizing gaze in space and thus allow to acquire visual information during the head movement. In recent years, several groups have developed clinical and quantitative approaches to functional testing of the vestibular system based on the ability to identify an optotype briefly displayed on screen during head rotations. Although the proposed techniques differ in terms of the parameters controlling the testing paradigm, no study has thus far dealt with understanding the role of such choices in determining the effectiveness and reliability of the testing approach.

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We developed the head impulse testing device (HITD) based on an inertial sensing system allowing to investigate the functional performance of the rotational vestibulo-ocular reflex (VOR) by testing its gaze stabilization ability, independently from the subject's visual acuity, in response to head impulses at different head angular accelerations ranging from 2000 to 7000 deg/s(2). HITD was initially tested on 22 normal subjects, and a method to compare the results from a single subject (patient) with those from controls was set up. As a pilot study, we tested the HITD in 39 dizzy patients suffering, non-acutely, from different kinds of vestibular disorders.

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In clinical settings, static ocular torsion is assessed by taking a fundus photograph and measuring the angle between a horizontal line and the line connecting the fovea to the head of the optic nerve (centro-cecal axis rotation; CCAR). We developed and tested a system specifically aimed at CCAR measurements, based on low-cost commercial hardware, and that implements an adaptive research algorithm that selects and presents bright dots on a monitor to outline the borders of the blind spot, locate its center, and measure CCAR. We examined 10 healthy subjects who underwent four CCAR measurements to evaluate the reliability of the system and compared our results with those of fundus photographic examination.

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