Publications by authors named "Cecile Gallea"

Background: Cervical dystonia is characterized by abnormal neck and head movements, possibly related to a dysfunction of the interstitial nucleus of Cajal (INC) and the head neural integrator, a system responsible for the control of head and eye movements. However, neuroanatomical evidence of alterations in the head neural integrator in cervical dystonia is sparse.

Objectives: We investigated structural and functional integrity of the INC and its connections in cervical dystonia.

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Background: MR-guided focused ultrasound (MRgFUS) has been developed to treat essential tremor effectively and noninvasively. Currently, clinical examination is used to identify therapeutic efficacy during treatment, but MRgFUS surgery could benefit from real-time, rater-independent quantitative monitoring of tremor, such as accelerometry data.

Methods: Fourteen patients with medically refractory essential tremor underwent MRgFUS thalamotomy.

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Healthy brain aging involves changes in both brain structure and function, including alterations in cellular composition and microstructure across brain regions. Unlike diffusion-weighted MRI (dMRI), diffusion-weighted MR spectroscopy (dMRS) can assess cell-type specific microstructural changes, providing indirect information on both cell composition and microstructure through the quantification and interpretation of metabolites' diffusion properties. This work investigates age-related changes in the higher-order diffusion properties of total N-Acetyl-aspartate (neuronal biomarker), total choline (glial biomarker), and total creatine (both neuronal and glial biomarker) beyond the classical apparent diffusion coefficient in cerebral and cerebellar gray matter of healthy human brain.

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Cerebellar functional and structural connectivity are likely related to motor function after stroke. Less is known about motor recovery, which is defined as a gain of function between two time points, and about the involvement of the cerebellum. Fifteen patients who were hospitalized between 2018 and 2020 for a first cerebral ischemic event with persistent upper limb deficits were assessed by resting-state functional MRI (rsfMRI) and clinical motor score measurements at 3, 9 and 15 weeks after stroke.

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Psychiatric symptoms are common in neurodevelopmental movement disorders, including some types of dystonia. However, research has mainly focused on motor manifestations and underlying circuits. Myoclonus-dystonia is a rare and homogeneous neurodevelopmental condition serving as an illustrative paradigm of childhood-onset dystonias, associated with psychiatric symptoms.

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Article Synopsis
  • The study explores myoclonus dystonia caused by a variant in the SGCE gene, focusing on the microarchitectural brain abnormalities linked to this rare condition.
  • Researchers compared the brain structures of 18 MYC/DYT-SGCE patients with 24 healthy volunteers using advanced imaging techniques to assess neurite organization.
  • Results indicate that patients exhibited changes in cerebellar structure, with specific alterations correlating to the severity of dystonia, while no links were found between myoclonus severity and the microarchitectural measurements.
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Background: Physical activity combined with virtual reality and exergaming has emerged as a new technique to improve engagement and provide clinical benefit for gait and balance disorders in people with Parkinson's disease (PD).

Objective: To investigate the effects of a training protocol using a home-based exergaming system on brain volume and resting-state functional connectivity (rs-FC) in persons with PD.

Methods: A single blind randomized controlled trial was conducted in people with PD with gait and/or balance disorders.

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Background: Transcranial ultrasound stimulation (TUS) is a non-invasive brain stimulation technique; when skull aberrations are compensated for, this technique allows, with millimetric accuracy, circumvention of the invasive surgical procedure associated with deep brain stimulation (DBS) and the limited spatial specificity of transcranial magnetic stimulation.

Objective: /hypothesis: We hypothesize that MR-guided low-power TUS can induce a sustained decrease of tremor power in patients suffering from medically refractive essential tremor.

Methods: The dominant hand only was targeted, and two anatomical sites were sonicated in this exploratory study: the ventral intermediate nucleus of the thalamus (VIM) and the dentato-rubro-thalamic tract (DRT).

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  • This study investigates the non-motor aspects of myoclonus dystonia, focusing on the sense of agency, which is how individuals perceive control over their actions, and how disruptions in this sense can affect movement disorders.* -
  • The research compared 19 patients with myoclonus dystonia (stemming from a specific genetic variant) to 24 healthy participants, revealing that the patients had a significant impairment in their explicit sense of agency, while their implicit sense remained unaffected.* -
  • Neuroimaging analyses showed structural and functional abnormalities in the cerebellum and its connectivity with the pre-supplementary motor area, suggesting these brain regions play a crucial role in the altered sense of agency in patients with my
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Background: Focal brain lesions following a stroke of the middle cerebral artery induce large-scale network disarray with a potential to impact multiple cognitive and behavioral domains. Over the last 20 years, non-invasive brain neuromodulation via electrical (tCS) stimulation has shown promise to modulate motor deficits and contribute to recovery. However, weak, inconsistent, or at times heterogeneous outcomes using these techniques have also highlighted the need for novel strategies and the assessment of their efficacy in ad hoc controlled clinical trials.

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Background: Monoallelic pathogenic variants of often result in paroxysmal kinesigenic dyskinesia (PKD). Little is known about health-related quality of life (HrQoL), non-motor manifestations, self-esteem, and stigma in patients with PKD.

Objectives: We investigated non-motor symptoms and how they related to HrQoL in a genetically homogeneous group of -PKD patients.

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Free will has been at the heart of philosophical and scientific discussions for many years. However, recent advances in neuroscience have been perceived as a threat to the commonsense notion of free will as they challenge two core requirements for actions to be free. The first is the notion of determinism and free will, i.

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Introduction: Gait disorders and falls occur early in progressive supranuclear palsy (PSP-RS) and Caribbean atypical parkinsonism (Caribbean AP). However, the link between these signs and brain lesions has never been explored in these patient populations. Here, we investigate and compare the imaging factors that relate to gait and balance disorders in Caribbean AP and PSP-RS patients.

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Background: Cervical dystonia (CD) is a form of isolated focal dystonia typically associated to abnormal head, neck, and shoulder movements and postures. The complexity of the clinical presentation limits the investigation of its pathophysiological mechanisms, and the neural networks associated to specific motor manifestations are still the object of debate.

Objectives: We investigated the morphometric properties of white matter fibers in CD and explored the networks associated with motor symptoms, while regressing out nonmotor scores.

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Aim: To identify subtypes of developmental coordination disorder (DCD) in children.

Method: Children with DCD diagnosed through comprehensive evaluation at Robert-Debré Children's University Hospital (Paris, France) were consecutively enrolled from February 2017 to March 2020. We performed an unsupervised hierarchical clustering based on principal component analysis using a large set of variables encompassing cognitive, motor, and visuospatial scores (Wechsler Intelligence Scale for Children, Fifth Edition; Developmental Neuropsychological Assessment, Second Edition; Movement Assessment Battery for Children, Second Edition).

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Introduction: The cerebellum and basal ganglia were initially considered anatomically distinct regions, each connected thalamic relays which project to the same cerebral cortical targets, such as the motor cortex. In the last two decades, transneuronal viral transport studies in non-human primates showed bidirectional connections between the cerebellum and basal ganglia at the subcortical level, without involving the cerebral cortical motor areas. These findings have significant implications for our understanding of neurodevelopmental and neurodegenerative diseases.

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  • The study investigates the relationship between auditory verbal hallucinations (AVH) in schizophrenia and specific white matter abnormalities, focusing on the left arcuate fasciculus and transcallosal pathways.
  • Findings reveal that schizophrenia patients with medication-resistant AVH have lower fractional anisotropy (FA) values in crucial areas of the left arcuate fasciculus and transcallosal pathways compared to healthy controls, suggesting disrupted white matter integrity.
  • Additionally, significant correlations were found between lower FA values in the left arcuate fasciculus and the severity of AVH’s attentional salience, indicating a possible link between these white matter changes and the experience of hallucinations.
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  • ADCY5-related dyskinesia is an early-onset movement disorder without an established treatment, but there's anecdotal evidence suggesting caffeine may help improve symptoms.
  • A worldwide study involving 30 patients indicated that caffeine was well tolerated, with 87% reporting symptom improvement, including reduced movement disorder frequency and enhanced quality of life.
  • The study concludes that caffeine could be a viable first-line treatment option for patients with ADCY5-related dyskinesia.
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  • The study investigates the role of the cerebellum in paroxysmal kinesigenic dyskinesia (PKD), a condition causing involuntary movements, highlighting the limited understanding of its underlying mechanisms.
  • Twenty-two patients with a specific genetic variant and matched controls participated in a comprehensive neuroimaging study to assess brain structures and connections related to PKD.
  • Results showed significant gray and white matter changes in the cerebellum and other related brain areas, with cerebellar stimulation improving the communication within motor networks, suggesting a potential therapeutic avenue.
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Dystonic tremor syndromes are highly burdensome and treatment is often inadequate. This is partly due to poor understanding of the underlying pathophysiology. Several lines of research suggest involvement of the cerebello-thalamo-cortical circuit and the basal ganglia in dystonic tremor syndromes, but their role is unclear.

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Introduction: Cervical dystonia is the most frequent form of isolated focal dystonia. It is often associated with a dysfunction in brain networks, mostly affecting the basal ganglia, the cerebellum, and the somatosensory cortex. However, it is unclear if such a dysfunction is somato-specific to the brain areas containing the representation of the affected body part, and may thereby account for the focal expression of cervical dystonia.

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Action selection refers to the decision regarding which action to perform in order to reach a desired goal, that is, the "what" component of intention. Whether the action is freely chosen or externally instructed involves different brain networks during the selection phase, but it is assumed that the way an action is selected should not influence the subsequent execution phase of the same movement. Here, we aim to test this hypothesis by investigating whether the modality of movement selection influences the brain networks involved during the execution phase of the movement.

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Article Synopsis
  • For over 20 years, research has highlighted the cerebellum's key role in non-motor functions, linking it to learning, reward processing, and cognitive functions like the sense of agency.
  • Recent studies suggest that the cerebellum acts as a connector between sensory-motor functions and higher cognitive processes, facilitating our understanding and expectations of actions.
  • The forward model theory, originally from motor control, explains how the cerebellum uses predictive and feedback loops, placing it anatomically at the crossroads of motor and sensory systems to integrate these functions with cognition.
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In humans, execution of unimanual movements requires lateralized activation of the primary motor cortex, which then transmits the motor command to the contralateral hand through the crossed corticospinal tract (CST). Mutations in NTN1 alter motor control lateralization, leading to congenital mirror movements. To address the role of midline Netrin-1 on CST development and subsequent motor control, we analyze the morphological and functional consequences of floor plate Netrin-1 depletion in conditional knockout mice.

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