Psychiatric phenotype in neurodevelopmental myoclonus-dystonia is underpinned by abnormality of cerebellar modulation on the cerebral cortex.

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.

Trial of Lixisenatide in Early Parkinson's Disease.

Background: Lixisenatide, a glucagon-like peptide-1 receptor agonist used for the treatment of diabetes, has shown neuroprotective properties in a mouse model of Parkinson's disease.

Methods: In this phase 2, double-blind, randomized, placebo-controlled trial, we assessed the effect of lixisenatide on the progression of motor disability in persons with Parkinson's disease. Participants in whom Parkinson's disease was diagnosed less than 3 years earlier, who were receiving a stable dose of medications to treat symptoms, and who did not have motor complications were randomly assigned in a 1:1 ratio to daily subcutaneous lixisenatide or placebo for 12 months, followed by a 2-month washout period.

Prognosis of impulse control disorders in Parkinson's disease: a prospective controlled study.

Background: The long-term prognosis of impulsive compulsive disorders (ICD) remains poorly studied in Parkinson's disease (PD).

Objective: Evaluating the natural history of ICD and its impact on PD symptoms including cognition and treatment adjustments.

Materials And Methods: We assessed PD patients at baseline (BL) with (BL-ICD+) or without (BL-ICD-) ICD despite dopamine agonist (DA) exposure of > 300 mg levodopa-equivalent daily dose for > 12 months at baseline and after more than two years of follow-up.

Indication for molecular testing by multiplex ligation-dependent probe amplification in parkinsonism.

Background And Purpose: The monogenic forms of Parkinson's disease represent <10% of familial cases and a still lower frequency of sporadic cases. However, guidelines to orient genetic testing are lacking. The aim was to establish the interest of multiplex ligation-dependent probe amplification (MLPA) as a primary screening test and to propose clinical criteria to guide genetic diagnostic tests for patients with suspected Mendelian Parkinson's disease.

Validation of a non-motor fluctuations questionnaire in Parkinson's disease.

Introduction: Non-motor fluctuations (NMF) in Parkinson's disease (PD) remain poorly recognized but have a high impact on patients' quality of life. The lack of assessment tools limits our understanding of NMF, compromising appropriate management. Our objective was to validate a hetero-questionnaire for NMF in PD patients at different stages of the disease: without treatment, without motor fluctuations, with motor fluctuations.

Episodic headache with spontaneous hypothermia reveal Shapiro's syndrome variant with effectiveness of clonidine therapy.

Background: Episodic headache with spontaneous hypothermia constitute an uncommon association and is not well recognized in the International Classification of Headache Disorders (ICHD-3). Spontaneous periodic hypothermia, also called Shapiro's syndrome, is a rare disease characterized by hypothermia attacks associated or not with hyperhidrosis without any triggering factor.

Case Presentation: We report a rare case of Shapiro's syndrome variantrevealed by episodes of headache with spontaneous hypothermia witheffectiveness of clonidine therapy in a 76-year-old Parkinson's disease woman.

Cortical hemodynamic mapping of subthalamic nucleus deep brain stimulation in Parkinsonian patients, using high-density functional near-infrared spectroscopy.

Subthalamic nucleus deep brain stimulation (STN-DBS) is an effective treatment for idiopathic Parkinson's disease. Despite recent progress, the mechanisms responsible for the technique's effectiveness have yet to be fully elucidated. The purpose of the present study was to gain new insights into the interactions between STN-DBS and cortical network activity.

Nucleus Basalis of Meynert Stimulation for Lewy Body Dementia: A Phase I Randomized Clinical Trial.

Objectives: Nucleus basalis of Meynert deep brain stimulation (NBM-DBS) has been proposed for patients with dementia. Here, we aim to assess the safety and effects of NBM-DBS in patients with Lewy body dementia (LBD), in a randomized, double-blind, crossover clinical trial.

Methods: Six patients with mild to moderate LBD (mean [SD] age, 62.

Selection of deep brain stimulation contacts using volume of tissue activated software following subthalamic nucleus stimulation.

Objective: High-frequency deep brain stimulation (DBS) of the subthalamic nucleus (STN) is effective in the treatment of motor symptoms of Parkinson's disease. Using a patient-specific lead and volume of tissue activated (VTA) software, it is possible to visualize contact positions in the context of the patient's own anatomy. In this study, the authors' aim was to demonstrate that VTA software can be used in clinical practice to help determine the clinical effectiveness of stimulation in patients with Parkinson's disease undergoing DBS of the STN.

[Non-motor symptoms of Parkinson's disease from pathophysiology to early diagnosis].

Parkinson's disease is the second most common neurodegenerative disease after Alzheimer's disease. The pathophysiology of Parkinson's disease is complex and imperfectly known. Primum movens is abnormal intra-neuronal accumulation of the protein α-synuclein, leading to metabolic disturbances and neurodegeneration.

Deep brain stimulation programming in Parkinson's disease: Introduction of current issues and perspectives.

Deep brain stimulation (DBS) is a well-established treatment for Parkinson's disease (PD) leading to a significant reduction in motor and non-motor symptoms. Numerous factors contribute to positive outcomes for DBS including careful patient selection, lead placement and effective programming. Only DBS programming can be modified after patient implantation, therefore DBS programming plays a crucial role in improving clinical outcomes.

Neocortical morphometry in Huntington's disease: Indication of the coexistence of abnormal neurodevelopmental and neurodegenerative processes.

Huntington's disease (HD) is an inherited, autosomal dominant disorder that is characteristically thought of as a degenerative disorder. Despite cellular and molecular grounds suggesting HD could also impact normal development, there has been scarce systems-level data obtained from in vivo human studies supporting this hypothesis. Sulcus-specific morphometry analysis may help disentangle the contribution of coexisting neurodegenerative and neurodevelopmental processes, but such an approach has never been used in HD.

Treatment with Botulinum Neurotoxin Improves Activities of Daily Living and Quality of Life in Patients with Upper Limb Tremor.

Background: Botulinum neurotoxin's degree of effectiveness on upper limb tremor is subject to debate; although this treatment reduces the tremor's amplitude, a clear functional benefit has not been demonstrated. The objective of this study was to assess the effect of botulinum neurotoxin type A treatment on activities of daily living and quality of life in patients with upper limb tremor.

Methods: We retrospectively examined the medical records of 50 consecutive patients treated with botulinum neurotoxin for upper limb tremor that was refractory to oral medication.

Acute Dementia After Deep Brain Stimulation in Parkinson Disease.

Background: It is not clear whether cognitive adverse events can occur after subthalamic nuclei deep brain stimulation in Parkinson disease, and the putative mechanisms are poorly understood.

Case Description: We report on a rare case of a 68-year-old woman with Parkinson disease but no previous cognitive impairment. The day after deep brain stimulation of the subthalamic nuclei, the woman presented with new-onset dementia and acute, severe, persistent, global cognitive decline, prompting a diagnosis of Alzheimer disease.

Predicting Current Thresholds for Pyramidal Tract Activation Using Volume of Activated Tissue Modeling in Patients Undergoing Deep Brain Stimulation Surgery.

Background: The volume of activated tissue (VTA) model attempts to represent in 3 dimensions the diffusion of the current provided by the deep brain stimulation lead on brain structures. The objective of the present study was to assess the correlations among the VTA, activation of the corticospinal tract, and the intraoperative side effect (ISE) threshold.

Methods: This double-blind, single-center study was performed between September 2016 and July 2017.

Anxiety-dependent modulation of motor responses to pain expectancy.

The relationship between pain expectancy and motor system plays a crucial role in the human defensive system. Here, we took advantage of the inhibitory modulation of the motor pathway to the muscle of the hand receiving painful stimuli, by recording motor-evoked potentials (MEPs) to Transcranial Magnetic Stimulation (TMS). We employed a classical conditioning paradigm in which neutral (visual and auditory) stimuli were conditioned by pairing either painful or not-painful stimuli (electric shocks) in separated groups.

Mental Simulation of Painful Situations Has an Impact on Posture and Psychophysiological Parameters.

Embodiment is made possible by the ability to imagine ourselves in a particular situation (mental simulation). Postural changes have been demonstrated in response to painful situations, but the effect of an implicit instruction has not been studied. The present study was designed to record differential responses according to whether or not subjects were instructed to imagine themselves in a painful or non-painful situation.

Asleep Robot-Assisted Surgery for the Implantation of Subthalamic Electrodes Provides the Same Clinical Improvement and Therapeutic Window as Awake Surgery.

Objective: To study the impact of not performing awake clinical evaluation during the robot-assisted implantation of subthalamic nucleus deep brain stimulation (STN-DBS) electrodes on the stimulation parameters and clinical outcomes in patients with Parkinson disease (PD).

Methods: A total of 23 patients with PD underwent robot-assisted surgery for the bilateral implantation of STN-DBS electrodes. Thirteen patients received general anesthesia (GA) and a limited intraoperative evaluation (side effects only), and the other 10 patients received local anesthesia (LA) and a full evaluation.

Association Between Motor Symptoms and Brain Metabolism in Early Huntington Disease.

Importance: Brain hypometabolism is associated with the clinical consequences of the degenerative process, but little is known about regional hypermetabolism, sometimes observed in the brain of patients with clinically manifest Huntington disease (HD). Studying the role of regional hypermetabolism is needed to better understand its interaction with the motor symptoms of the disease.

Objective: To investigate the association between brain hypometabolism and hypermetabolism with motor scores of patients with early HD.