Search results for "Movement Disorders"
showing 10 items of 74 documents
Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment
2019
VAMP2 encodes the vesicular SNARE protein VAMP2 (also called synaptobrevin-2). Together with its partners syntaxin-1A and synaptosomal-associated protein 25 (SNAP25), VAMP2 mediates fusion of synaptic vesicles to release neurotransmitters. VAMP2 is essential for vesicular exocytosis and activity-dependent neurotransmitter release. Here, we report five heterozygous de novo mutations in VAMP2 in unrelated individuals presenting with a neurodevelopmental disorder characterized by axial hypotonia (which had been present since birth), intellectual disability, and autistic features. In total, we identified two single-amino-acid deletions and three non-synonymous variants affecting conserved resid…
Delayed postural control during self-generated perturbations in the frail older adults
2012
Alexandre Kubicki1–3, François Bonnetblanc1,2, Geoffroy Petrement3, Yves Ballay1,2, France Mourey2,4¹UFR STAPS, Université de Bourgogne, Dijon, France; ²Motricité et Plasticité, Institut National de la Santé et de la Recherche Médicale (INSERM), Dijon, France; ³SARL Fovea Interactive, Campus Industriel – Espace Entreprises, Chalon sur Saône, France; 4UFR Médecine, Université de Bourgogne, Dijon, FrancePurpose: The aim of this study was to investigate the coordination between posture and movement in pathological aging (frailty) in comparison with no…
Quantitative assessment of stereotyped and challenged locomotion after lesion of the striatum: a 3D kinematic study in rats.
2009
Background Although the striatum is in position to regulate motor function, the role of the structure in locomotor behaviour is poorly understood. Therefore, a detailed analysis of locomotion- and obstacle avoidance-related parameters was performed after unilateral lesion of the striatum in rats. Methods and Results Using the three dimensional motion capture technology, kinematics of walking and clearing obstacles, head and body orientation were analyzed before and up to 60 days after the lesion. Recordings were performed in treadmill running rats with or without obstacles attached to the treadmill belt. The lesion, which was induced by the direct injection of the mitochondrial toxin malona…
Preliminary experience with a transcranial magnetic resonance-guided focused ultrasound surgery system integrated with a 1.5-T MRI unit in a series o…
2018
OBJECTIVETranscranial magnetic resonance–guided focused ultrasound surgery (tcMRgFUS) is one of the emerging noninvasive technologies for the treatment of neurological disorders such as essential tremor (ET), idiopathic asymmetrical tremor-dominant Parkinson’s disease (PD), and neuropathic pain. In this clinical series the authors present the preliminary results achieved with the world’s first tcMRgFUS system integrated with a 1.5-T MRI unit.METHODSThe authors describe the results of tcMRgFUS in a sample of patients with ET and with PD who underwent the procedure during the period from January 2015 to September 2017. A monolateral ventralis intermedius nucleus (VIM) thalamic ablation was pe…
Different methods for anatomical targeting.
2003
AIM: Several procedures are used in the different neurosurgical centers in order to perform stereotactic surgery for movement disorders. At the moment no procedure can really be considered superior to the other. We contribute with our experience of targeting method. METHODS: Ten patients were selected, in accordance to the guidelines for the treatment of Parkinson disease, and operated by several methods including pallidotomy, bilateral insertion of chronic deep brain electrodes within the internal pallidum and in the subthalamic nucleus (18 procedures). Interventions: in each patient an MR scan was performed the day before surgery. Scans were performed axially parallel to the intercommissu…
Movements Execution in Amnestic Mild Cognitive Impairment and Alzheimer’s Disease
2007
We evaluated the relationship between motor and neuropsychological deficits in subjects affected by amnestic Mild Cognitive Impairment (aMCI) and early Alzheimer’s Disease (AD). Kinematics of goal-directed movement of aMCI and AD subjects were compared to those of age-matched control subjects. AD showed a slowing down of motor performance compared to aMCI and controls. No relationships were found between motor and cognitive performances in both AD and aMCI. Our results suggest that the different motor behaviour between AD and aMCI cannot be related to memory deficits, probably reflecting the initial degeneration of parietal-frontal circuits for movement planning. The onset of motor dysfunct…
The Clinical and Molecular Spectrum of GM1 Gangliosidosis
2019
Objective To evaluate the clinical presentation of patients with GM1 gangliosidosis and to determine whether specific clinical or biochemical signs could lead to a prompt diagnosis. Study design We retrospectively analyzed clinical, biochemical, and genetic data of 22 patients with GM1 gangliosidosis from 5 metabolic centers in Germany and Austria. Results Eight patients were classified as infantile, 11 as late-infantile, and 3 as juvenile form. Delay of diagnosis was 6 ± 2.6 months in the infantile, 2.6 ± 3.79 years in the late-infantile, and 14 ± 3.48 years in the juvenile form. Coarse facial features, cherry red spots, and visceromegaly occurred only in patients with the infantile form. …
Can loss of sensory attenuation be accurately demonstrated using two effectors simultaneously?
2015
Sir, Recently, Parees and colleagues (2014) compared patients with functional (psychogenic) movement disorders and healthy subjects who were asked to match a force delivered to their left finger by pressing on it directly, or by operating a joystick to press down on it, with the other hand. They observed that healthy subjects generated more force than required when pressing directly on their finger (compared with using the joystick), whereas patients did not. They interpreted and discussed this result as a loss of sensory attenuation that typically occurs in healthy subjects during self-generated movements and suggested by return, that it illustrates an altered sense of agency for the patie…
Effects of progressive resistance exercise in akinetic-rigid Parkinson's disease patients: a randomized controlled trial.
2017
Progressive resistance exercise (PRE) can have a positive effect in individuals with Parkinson’s disease (PD). However, the effect of PRE may vary with the clinical subtype of PD. To date, no study has assessed the effects of PRE in the different subtypes of PD. AIM: The aim of the present study was to assess the effects of PRE in PD patients with akinesia and rigidity (AR-subtype). DESIGN: A randomized controlled trial was conducted. SETTING: Outpatients clinics of the Bierzo Parkinson Association (Ponferrada, Spain) and the Asturias Parkinson Association (Oviedo, Spain). POPULATION: Twenty-eight patients with AR-subtype PD were randomized into an Experimental Group (EG, N.=13) and Control…
MOTOR DYSFUNCTION OF THE "NON AFFECTED" LOWER LIMB: A KINEMATIC COMPARATIVE STUDY BETWEEN HEMIPARETIC STROKE AND TOTAL KNEE PROSTHESIZED PATIENTS
2009
In patients with hemispheric stroke, abnormal motor performances are described also in the ipsilateral limbs. They may be due to a cortical reorganization in the unaffected hemisphere; moreover, also peripheral mechanisms may play a role. To explore this hypothesis, we studied motor performances in 15 patients with hemispheric stroke and in 14 patients with total knee arthroplasty, which have a reduced motility in the prosthesized leg. Using the unaffected leg, they performed five superimposed circular trajectories in a prefixed pathway on a computerized footboard, while looking at a marker on the computer screen. The average trace error was significantly different between the groups of pat…