Publications by authors named "Vidailhet M"
Tremor is defined as an oscillatory and rhythmical movement. By contrast, dystonia is defined by sustained or intermittent abnormal postures, repetitive movements, or both. Tremor and dystonia often coexist in the same individual.
View Article and Find Full Text PDFDystonia is one of the most prevalent movement disorders, characterized by significant clinical and etiological heterogeneity. Despite considerable heritability (~25%) and the identification of several disease-linked genes, the etiology in most patients remains elusive. Moreover, understanding the correlations between clinical manifestation and genetic variants has become increasingly complex.
View Article and Find Full Text PDFIntroduction: Recent new advances in myoclonus characterization and etiology justify an update of the 40-year-old respected classification of myoclonus proposed by Marsden, Hallett, and Fahn. New advances include genetic studies and clinical neurophysiology characterization.
Methods: The IAPRD appointed an expert panel to develop a new myoclonus classification.
Background And Purpose: Disabling dystonia despite optimal medical treatment is common in Wilson disease (WD). No controlled study has evaluated the effect of deep brain stimulation (DBS) on dystonia related to WD. This study was undertaken to evaluate the efficacy of DBS on dystonia related to WD.
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- * It found that GTS patients exhibited higher firing rates and burst activity, while DYS patients showed more pauses and burst frequency, highlighting distinct neuronal activity patterns between the two disorders.
- * The research suggests a need for further studies on neuronal behavior in the GPi to improve DBS techniques and tailor treatments for better clinical outcomes in patients with hyperkinetic movement disorders.
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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- Sleep-disordered breathing (SDB) is common in multiple system atrophy (MSA) patients, and the research evaluated the immediate effects and safety of CPAP therapy for treating SDB.
- In a study of 63 MSA patients, CPAP therapy showed significant improvements such as normalization of apnea-hypopnea index, reduced arousal index, and increased REM sleep, with most patients tolerating the treatment well.
- Nonresponders to CPAP therapy tended to have more severe motor symptoms, indicating that the therapy is effective primarily in milder cases of motor impairment in MSA patients.
Article Synopsis
- Parkinson's disease (PD) and multiple system atrophy (MSA) may be foreshadowed by isolated REM sleep behavior disorder (iRBD), which prompts research into potential biomarkers like sighing patterns during sleep.
- A study involving 73 MSA participants, 111 with iRBD, 257 with PD, and 115 controls found that the MSA group exhibited the highest rate of sighing during slow wave sleep (N3), with a specific sigh index being effective in distinguishing MSA from controls.
- The findings suggest that monitoring sigh frequency during sleep could serve as a useful screening tool for MSA in middle-aged individuals, although further research is needed to investigate the implications of sighing in those with
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.
Eyes as a window to brain pathology in parkinson's disease: a narrative review.
J Neural Transm (Vienna)
October 2024
There is a renewed interest on eye movements analysis and retinal alterations in Parkinson's disease. This may identify markers for at-risk subpopulation, early diagnosis and evolutive profiles for research or personalized medicine.
View Article and Find Full Text PDFObjectives: To expand the phenotype and genotype of -related dystonia (DYT).
Methods: We report 2 patients with previously unreported truncating variants and highlight some distinctive phenomenological characteristics of DYT-
Results: The 2 patients, who were unrelated, presented with early-onset orofacial dystonia with prominent tongue involvement. Case 1, a 37-year-old woman, developed disabling orofacial dystonia, with tongue protrusion (lingual dystonia), orofacial gesticulations, and hyperkinetic dysarthria, responsible for an odd "foreign language" quality.
Background: Prolonged levodopa treatment in Parkinson's disease (PD) often leads to motor complications, including levodopa-induced dyskinesia (LID). Despite continuous levodopa treatment, some patients do not develop LID symptoms, even in later stages of the disease.
Objective: This study explores machine learning (ML) methods using baseline clinical characteristics to predict the development of LID in PD patients over four years, across multiple cohorts.
Aim: This exploratory study evaluates rating scale usage by experts from the European Reference Network for Rare Neurological Diseases (ERN-RND) for paediatric MD, considering factors like diagnosis, intellectual disability, age, and transition to adult care. The aim is to propose a preliminary framework for consistent application.
Methods: A multicentre survey among 25 ERN-RND experts from 10 European countries examined rating scale usage in paediatric MD, categorizing MD into acute, non-progressive, and neurodegenerative types.
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).
Background: In early-stage Parkinson's disease (PD), rapid eye movement (REM) sleep behavior disorder (RBD) predicts poor cognitive and motor outcome. However, the baseline significance and disease evolution associated with isolated REM sleep without atonia (iRWA, ie, enhanced muscle tone during 8.7% of REM sleep, but no violent behavior) are not well understood.
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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
Bi-allelic pathogenic variants in PRKN are the most common cause of autosomal recessive Parkinson's disease (PD). 647 patients with PRKN-PD were included in this international study. The pathogenic variants present were characterised and investigated for their effect on phenotype.
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- Parkinson's disease (PD) is linked to disrupted brain connectivity and autonomic dysfunction, leading to motor and cognitive decline, as well as reduced sensitivity to cardiac inputs.
- This study investigates the relationship between brain-heart coupling and motor symptoms in PD by analyzing electroencephalogram (EEG) and electrocardiogram (ECG) data from patients, both on and off medication, and comparing it to healthy individuals.
- Results indicate that PD patients show reduced brain-heart coupling, particularly noticeable in specific brain wave patterns, but this coupling improves with dopaminergic medication in correlation with reduced motor symptoms, suggesting a new avenue for understanding and evaluating early PD.
Article Synopsis
- * It involved 113 patients with diagnoses like Parkinson's disease and progressive supranuclear palsy, analyzing the accuracy of clinical criteria, MRI readings, and a machine-learning algorithm.
- * Results indicated that MRI visual reading significantly enhanced diagnostic accuracy by 14.3%, and combining it with clinical criteria further improved accuracy to 85.4%, suggesting MRI is beneficial in early diagnoses.
Article Synopsis
- In early-stage Parkinson's disease (PD), a study found that sleep disorders such as insomnia, REM sleep behavior disorder (RBD), excessive daytime sleepiness (EDS), and restless legs syndrome (RLS) are common, affecting 71% of participants.
- Insomnia was the most prevalent disorder at 41%, and these sleep disorders often occurred in combination, particularly as disease duration increased.
- The research revealed that factors like gender, age, and dysautonomia were linked to specific sleep disorders, indicating that the causes of these disturbances are likely more physical than psychological.
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.
Background: Clinical presentation and progression dynamics are variable in patients with Parkinson's disease (PD). Disease course mapping is an innovative disease modelling technique that summarizes the range of possible disease trajectories and estimates dimensions related to onset, sequence, and speed of progression of disease markers.
Objective: To propose a disease course map for PD and investigate progression profiles in patients with or without rapid eye movement sleep behavioral disorders (RBD).