Search results for " movement disorders"

showing 6 items of 6 documents

[Exercices program and rehabilitation of motor disorders in Parkinson's disease].

2000

International audience; As long as motor disorders are controlled by DOPAtherapy, exercise programs and rehabilitation would not appear to be essential for patients suffering from Parkinson's disease. Such measures do become necessary however when secondary occurrence of motor decline develops. Physical medicine and rehabilitation have not been really involved in Parkinson's disease and few articles have assessed the value of these programs. In fact, controlled randomized studies have faced two kinds of methodological difficulties, those due to rehabilitation practices, and those due to Parkinson's disease specificity, especially similarities between groups for Hoehn and Yahr stage at study…

MESH: HumansMovement DisordersMESH : Humans[SDV.NEU.SC]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Cognitive SciencesParkinson DiseaseMESH : Exercise TherapyExercise Therapy[ SDV.NEU.SC ] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Cognitive SciencesMESH : Parkinson DiseaseMESH : Physical Therapy ModalitiesMESH : Movement DisordersMESH: Exercise TherapyHumans[SDV.NEU.SC] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Cognitive SciencesMESH: Movement DisordersMESH: Parkinson DiseasePhysical Therapy ModalitiesMESH: Physical Therapy ModalitiesRevue neurologique
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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…

MaleHeterozygoteAdolescentVesicle-Associated Membrane Protein 2neuronal exocytosisynaptopathyautismsynaptobrevinMembrane FusionExocytosisR-SNARE ProteinsProtein DomainsReportIntellectual DisabilityGeneticsHumansAutistic DisorderChildGenetics (clinical)NeuronsNeurotransmitter Agentsneurodevelopmental disordersvesicle fusionBrainautism; epilepsy; movement disorders; neurodevelopmental disorders; neuronal exocytosis; SNARE; synaptobrevin; synaptopathy; VAMP2; vesicle fusionneuronal exocytosisLipidsMagnetic Resonance Imagingneurodevelopmental disorderautism epilepsy movement disorders neurodevelopmental disorders neuronal exocytosis SNARE synaptobrevin synaptopathy VAMP2 vesicle fusion Genetics Genetics (clinical)Phenotypeautism; epilepsy; movement disorders; neurodevelopmental disorders; neuronal exocytosis; SNARE; synaptobrevin; synaptopathy; VAMP2; vesicle fusion; Genetics; Genetics (clinical)VAMP2SNAREChild PreschoolMutationSynapsesMuscle Hypotoniaepilepsymovement disordersFemalesense organsmovement disorder
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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…

MaleSettore MED/27 - NeurochirurgiaParkinson DiseaseMiddle AgedGlobus PallidusMagnetic Resonance ImagingNeurosurgical ProceduresCerebral AngiographyStereotaxic TechniquesSurgery Computer-AssistedDBS movement disorders stereotactic neurosurgerySubthalamic NucleusCerebrovascular CirculationBlood VesselsHumansFemaleTomography X-Ray ComputedAgedJournal of neurosurgical sciences
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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…

Malemedicine.medical_specialtyMild Cognitive ImpairmentMotor dysfunctionneuropsychologyNeurosciences. Biological psychiatry. NeuropsychiatryDiseaseAudiologyNeuropsychological TestsMotor behaviourSeverity of Illness Indexbehavioral disciplines and activitiesAlzheimer Diseasemental disordersmedicineReaction TimeHumansBiomechanicsClinical NoteAlzheimer’s DiseaseCognitive impairmentalzheimer's disease mild cognitive impairment kinematicsAgedDemographypointingMovement DisordersNeuropsychologyCognitionGeneral MedicineControl subjectsBiomechanical PhenomenaSeverity of Illness Index; Humans; Alzheimer Disease; Aged; Mental Recall; Cognition Disorders; Demography; Movement Disorders; Neuropsychological Tests; Amnesia; Biomechanics; Female; Male; Reaction TimeNeuropsychology and Physiological PsychologyNeurologykinematicsMental RecallSettore MED/26 - NeurologiaFemaleNeurology (clinical)AmnesiaPsychologyCognition DisordersNeuroscienceMovement planningRC321-571Behavioural Neurology
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Surgery of Parkinson's disease. Experience in Messina

2003

No abstract

Parkinson disease DBSParkinson disease DBS movement disordersItalyElectric Stimulation Therapy; Humans; Italy; Neurosurgical Procedures; Parkinson DiseaseSettore MED/27 - NeurochirurgiaHumansElectric Stimulation TherapyParkinson DiseaseNeurosurgical Procedures
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Myotomy of cricopharungeal muscle in the therapy of dyskinesia of upper esophageal sphincter: personal experience

2012

Dyskinesia of the esophagus includes the entire esophagus from the upper esophageal sphincter to the lower esophageal sphinc - ter together with a wide spectrum of physi - opathological and clinical variations. Related to functional diseases such as Dyskinesia of UES (Upper Esophageal Sphincter), myo- tomy is an excellent procedure for patients with cervical dysphagia. In our experience, the surgical treatment is the only procedure to treat UES dyskinesia. For a successful in - tervention is mandatory: a pharyngeal pump efficiency, hypertension of UES and conservation of esophageal peristalsis in the absence of GERD (Gatroesophageal Reflux Disease). From January 2006 to December 2011, the A…

esophageal sphincter upper. movement disorders - surgical procedures operative
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