A5032654601- Neurological disorders and treatments
- Parkinson's Disease Mechanisms and Treatments
- Genetic Neurodegenerative Diseases
- Botulinum Toxin and Related Neurological Disorders
- Glycogen Storage Diseases and Myoclonus
- Metabolism and Genetic Disorders
- Genetics and Neurodevelopmental Disorders
- Transcranial Magnetic Stimulation Studies
- Mitochondrial Function and Pathology
- Obsessive-Compulsive Spectrum Disorders
- Genomics and Rare Diseases
- Diet and metabolism studies
- Restless Legs Syndrome Research
- Neurological and metabolic disorders
- Neurological diseases and metabolism
- Autoimmune Neurological Disorders and Treatments
- Psychosomatic Disorders and Their Treatments
- Epilepsy research and treatment
- Advanced Neuroimaging Techniques and Applications
- Axon Guidance and Neuronal Signaling
- Lysosomal Storage Disorders Research
- Long-Term Effects of COVID-19
- Nuclear Receptors and Signaling
- Autism Spectrum Disorder Research
- Motor Control and Adaptation
Sorbonne Université
2016-2025
Centre National de la Recherche Scientifique
2016-2025
Pitié-Salpêtrière Hospital
2016-2025
Institut du Cerveau
2016-2025
Inserm
2016-2025
Assistance Publique – Hôpitaux de Paris
2015-2024
Université Sorbonne Nouvelle
2021-2024
Allen Institute for Brain Science
2019-2024
Institut de Psychiatrie et Neurosciences de Paris
2022-2024
Centre National pour la Recherche Scientifique et Technique (CNRST)
2008-2024
Whereas recent investigations have revealed viral, inflammatory, and vascular factors involved in severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) lung pathogenesis, the pathophysiology of neurological disorders disease 2019 (COVID-19) remains poorly understood. Olfactory taste dysfunction are common COVID-19, especially mildly symptomatic patients. Here, we conducted a virologic, molecular, cellular study olfactory neuroepithelium seven patients with COVID-19 presenting loss...
Although normal subjects do not move during REM sleep, patients with Parkinson's disease may experience sleep behaviour disorder (RBD). The characteristics of the abnormal movements in RBD have, however, been studied. We interviewed one hundred consecutive non-demented and their bed partners using a structured questionnaire assessing presence RBD. They rated quality movements, voice facial expression as being better, equal or worse than awake ON levodopa condition. Night-time were...
Abstract Bi-allelic pathogenic variants in PRKN are the most common cause of autosomal recessive Parkinson’s disease (PD). 647 patients with -PD were included this international study. The present characterised and investigated for their effect on phenotype. Clinical features progression was also assessed. Among 133 index cases ( n = 582), there 58 (43.6%) structural variants, 34 (25.6%) missense, 20 (15%) frameshift, 10 splice site (7.5%%), 9 (6.8%) nonsense 2 (1.5%) indels. frequent...
Abstract In Parkinson’s disease (PD), it remains unclear whether sleep disorders including insomnia, REM behavior disorder (RBD), excessive daytime sleepiness (EDS), restless legs syndrome (RLS) and sleep-disordered breathing (SDB), are isolated or combined, interact with each other associated clinical factors. We sought to determine the prevalence combinations of main disorders, their polysomnographic associations in early stage PD. Sleep were systematically diagnosed after medical...
Sepiapterin reductase deficiency (SRD) is an under-recognized levodopa-responsive disorder. We describe clinical, biochemical, and molecular findings in a cohort of patients with this treatable condition. aim to improve awareness the phenotype available diagnostic therapeutic strategies reduce delayed diagnosis or misdiagnosis, optimize management, understanding pathophysiologic mechanisms.Forty-three individuals SRD were identified from 23 international medical centers. The treatment...
Abstract Tics are sometimes described as voluntary movements performed in an automatic or habitual way. Here, we addressed the question of balance between goal-directed and behavioural control Gilles de la Tourette syndrome formally tested hypothesis enhanced habit formation these patients. To this aim, administered a three-stage instrumental learning paradigm to 17 unmedicated antipsychotic-medicated patients with matched controls. In first stage task, participants learned...
Dopa-responsive dystonia is a childhood-onset dystonic disorder, characterized by dramatic response to low dose of l-Dopa. mostly caused autosomal dominant mutations in the GCH1 gene (GTP cyclohydrolase1) and more rarely recessive TH (tyrosine hydroxylase) or SPR (sepiapterin reductase) genes. In addition, PARK2 (parkin) which causes juvenile parkinsonism may present as dystonia. order evaluate relative frequency these genes, but also genes involved biosynthesis recycling BH4, associated...
Background and Purpose— Standard aphasia scales such as the Boston Diagnosis Aphasia Evaluation are inappropriate for use in acute stroke. Likewise, global stroke do not reliably detect aphasia, existing brief screening suitable patients with have several limitations. The objective of this study was to generate validate a bedside language tool, Language Screening Test, emergency setting. Methods— Test comprises 5 subtests total 15 items. To avoid retest bias, we created 2 parallel versions...
<h3>ABSTRACT</h3> <h3>Objective:</h3> Hemiplegic migraine (HM) is a rare subtype of with aura that occurs as familial or sporadic condition. The 3 culprit genes identified so far do not account for all forms HM. <i>PRRT2</i> mutations have recently been shown to cause various childhood-onset episodic syndromes including paroxysmal kinesigenic dyskinesia, infantile convulsions choreoathetosis syndrome, and benign epilepsy. Our objective was test the possible implication in HM, another...
Plasticity of the human primary motor cortex (M1) has a critical role in control and learning. The cerebellum facilitates these functions using sensory feedback. We investigated whether cerebellar processing afferent information influences plasticity (M1). Theta-burst stimulation protocols (TBS), both excitatory inhibitory, were used to modulate excitability posterior condition an ongoing M1 plasticity. was subsequently induced 2 different ways: by paired associative (PAS) involving TBS that...
Benign hereditary chorea (BHC) is a rare autosomal dominant disorder characterised by childhood onset that tends to improve in adulthood. The associated gene, NKX2-1 (previously called TITF1), essential for organogenesis of the basal ganglia, thyroid and lungs. aim study was refine movement disorders phenotype. We also studied disease course response therapy large series genetically proven patients.We analysed clinical, genetic findings follow-up data 28 mutated BHC patients from 13...
To investigate the clinical spectrum and distinguishing features of adenylate cyclase 5 (ADCY5)-related dyskinesia genotype-phenotype relationship.We analyzed ADCY5 in patients with choreiform or dystonic movements by exome targeted sequencing. Suspected mosaicism was confirmed allele-specific amplification. We evaluated our 50 new previously reported cases.We identified 3 families 12 sporadic cases mutations. These mutations cause a mixed hyperkinetic disorder that includes dystonia,...
See Raethjen and Muthuraman (doi:10.1093/brain/awv238) for a scientific commentary on this article. Essential tremor is movement disorder characterized by during voluntary movements, mainly affecting the upper limbs. The cerebellum its connections to cortex are known be involved in essential tremor, but no task-free intrinsic signatures of related structural cerebellar defects have so far been found cortical motor network. Here we used voxel-based morphometry, tractography resting-state...
Abstract Background Most reported patients carrying GNAO1 mutations showed a severe phenotype characterized by early‐onset epileptic encephalopathy and/or chorea. Objective The aim was to characterize the clinical and genetic features of with mild ‐related prominent movement disorders. Methods We included diagnosed disorders delayed onset (>2 years). Patients experiencing either or profound intellectual disability were excluded. Results Twenty‐four 1 asymptomatic subject included. All...