Publications by authors named "Roze E"
Objective: To describe peripheral neuropathy associated with familial Creutzfeldt-Jakob disease.
Methods: We report two unrelated patients with genetic Creutzfeldt-Jakob disease with demyelinating peripheral neuropathy as initial presentation, with a comprehensive clinical, electrophysiological and neuropathological description.
Results: Both patients exhibited gait disturbance and paresthesia.
Retinoblastoma (RB) proteins are highly conserved transcriptional regulators that play important roles during development by regulating cell-cycle gene expression. RBL2 dysfunction has been linked to a severe neurodevelopmental disorder. However, to date, clinical features have only been described in six individuals carrying five biallelic predicted loss of function (pLOF) variants.
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- Dystonia is a common movement disorder with a complex genetic background, showing significant variability in its clinical presentation and genetics.
- The study involved exome sequencing of nearly 1,924 patients, mainly from two major registries, focusing on those with genetic prescreening negative results and early age at onset.
- Researchers discovered 137 likely pathogenic variants in 51 genes among the patients, with many being novel, highlighting the challenges in diagnosing and understanding the disorder's genetic links.
Introduction: 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.
Article Synopsis
- - KCNMA1-linked channelopathy leads to neurodevelopmental disorders, epilepsy, and non-epileptic episodes characterized by specific facial, behavioral, and physical symptoms.
- - A review of 14 videos highlighted typical episode features: facial changes, behavioral arrest, loss of postural control, and quick recovery without drowsiness, with episodes often triggered by emotions.
- - Distinguishing KCNMA1-related attacks from other conditions like paroxysmal dyskinesia and cataplexy will improve accurate diagnosis and targeted treatment for affected individuals.
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.
View Article and Find Full Text PDFPsychiatric 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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- Tremor is the most common movement disorder, and while oral medications often have limited effectiveness due to side effects, botulinum toxin (BT) shows promise for improving upper limb function, although strong evidence is still lacking.
- A systematic review analyzed existing studies on BT for upper-limb tremor, finding only eight randomized controlled trials and seven open-label studies with small sample sizes, indicating that tailored injections based on individual needs lead to better outcomes.
- While BT injections can improve functionality, they may cause temporary weakness, particularly in wrist and finger movements; the review suggests optimizing injection techniques to minimize weakness and enhance effectiveness in treating tremors.
Previous studies showed positive associations between milk intake and Parkinson's disease (PD) in men but not in women, but few studies were available in women. Due to the long prodromal PD phase, reverse causation represents a major threat to investigations of diet in PD; cohort studies with a long follow-up are needed. We investigated associations between intake of milk and other dairy products with PD incidence in women from the E3N cohort study (1993-2018).
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- 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.
The relationship between corticospinal excitability and structural integrity in stroke patients.
J Neurol Neurosurg Psychiatry
December 2024
Article Synopsis
- The study investigates the relationship between the structure and function of the corticospinal tract (CST) in predicting motor recovery after a stroke, focusing on patients within a week of experiencing an acute ischemic stroke.
- Involving 70 patients with unilateral upper extremity weakness, it utilized clinical assessment, MRI scans to check CST lesion load, and transcranial magnetic stimulation to gauge motor functions.
- Results show that a high CST lesion load can accurately predict a lack of motor response, and the relationship between CST structure and function varies based on the amplitude of the motor evoked potentials (MEP), influencing recovery patterns in stroke patients.
Objectives: 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.
Article Synopsis
- Augusta's Oath
- podcast consists of six episodes focusing on key areas like the patient-doctor relationship, professionalism, and ethics in healthcare, aimed at making medical humanities engaging for students.
- * The podcast was offered as an optional module for medical students at Sorbonne University, and feedback was collected to assess its effectiveness in enhancing students' understanding of medical humanities.
- * Students reported a positive experience, feeling that the podcast increased their knowledge and shifted their perspectives on healthcare topics, highlighting the value of podcasts in medical education.
Article Synopsis
- Biallelic variants in the ZBTB11 gene are linked to a rare intellectual developmental disorder known as MRT69, which shows a variety of clinical symptoms.
- The study focused on analyzing clinical and genetic traits of 29 individuals (ages 2-50) with these variants, finding diverse neurodevelopmental issues and complex movement disorders among the patients.
- Results revealed that many patients had abnormal movements (like ataxia and dystonia) and cataracts, with one patient showing improvement from deep brain stimulation, contributing 13 new genetic variants to the understanding of ZBTB11-related disorders.
Article Synopsis
- Ethyl chloride inhalation has emerged as a recreational drug misuse trend, leading to significant neurological effects, as outlined in a recent case report.
- A 48-year-old man presented with unsteady gait, dizziness, and memory impairment, with his symptoms traced back to ethyl chloride use after a comprehensive medical evaluation.
- It's crucial for healthcare professionals to identify the signs of ethyl chloride intoxication, as it can lead to serious cardiovascular complications.
Neuroinflammatory markers at school age in preterm born children with neurodevelopmental impairments.
Brain Behav Immun Health
July 2024
Background: Immune system activation in the neonatal period is associated with white matter injury in preterm infants. In animal studies, neonatal priming of the immune system leads to chronic activation of i.e.
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- * A study examined 28 patients from 18 families with loss of function (LOF) variants, revealing a spectrum of neurological and developmental issues including global developmental delay, intellectual disabilities, microcephaly, and behavioral abnormalities.
- * Research using fruit flies showed that mutations in the RBF gene mirrored symptoms seen in patients, affecting brain morphology and movement, and highlighted the importance of ongoing RBL2 expression in mature neurons for normal locomotion, suggesting potential therapeutic avenues.
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.
View Article and Find Full Text PDFBackground: Although the group of paroxysmal kinesigenic dyskinesia (PKD) genes is expanding, the molecular cause remains elusive in more than 50% of cases.
Objective: The aim is to identify the missing genetic causes of PKD.
Methods: Phenotypic characterization, whole exome sequencing and association test were performed among 53 PKD cases.
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.