Intracerebroventricular anaerobic dopamine in Parkinson's disease with L-dopa-related complications: a phase 1/2 randomized-controlled trial.

Continuous compensation for cerebral dopamine deficiency represents an ideal treatment for Parkinson's disease. Dopamine does not cross the digestive and blood-brain barriers and is rapidly oxidized. The new concept is the intracerebroventricular administration of anaerobic dopamine (A-dopamine) using an abdominal pump connected to a subcutaneous catheter implanted in the third ventricle, near the striatum.

Surgical Management of Intracerebral Hemorrhage: New Light on the Horizon?

After 30 years of disappointment, 2 randomized controlled trials investigating the effect of neurosurgical treatment on functional outcome in patients with intracerebral hemorrhage were published in 2024. The ENRICH trial (Early Minimally Invasive Removal of Intracerebral Hemorrhage) studied the efficacy of early minimally invasive hematoma removal in patients with lobar or anterior basal ganglia intracerebral hemorrhage, whereas the SWITCH trial investigated the effect of decompressive craniectomy without hematoma removal in severe deep intracerebral hemorrhage. In this critique article, we will discuss the main findings of these trials, their implications and future perspectives.

The American Clinical Neurophysiology Society Guideline on Indications for Continuous Electroencephalography Monitoring in Neonates.

Purpose: Continuous EEG (cEEG) monitoring is increasingly used in the management of neonates with seizures. There remains debate on what clinically relevant information can be gained from cEEG in neonates with suspected seizures, at high risk for seizures, or with definite seizures, as well as the use of cEEG for prognosis in a variety of conditions. In this guideline, we address these questions using American Clinical Neurophysiology Society structured methodology for clinical guideline development.

Simple reaction time to visual and auditory stimulation in glaucoma.

Background/objectives: Glaucoma can impact the ability to perform daily life activities such as driving. In such tasks, reaction time is critical to detect hazards. Understanding the modalities that affect response times is thus essential for clinical care.

Estrogen-regulated lateral septal kisspeptin neurons abundantly project to GnRH neurons and the hypothalamic supramammillary nucleus.

While hypothalamic kisspeptin (KP) neurons play well-established roles in the estrogen-dependent regulation of reproduction, little is known about extrahypothalamic KP-producing (KP) neurons of the lateral septum. As established previously, expression in this region is low and regulated by estrogen receptor- and GABA receptor-dependent mechanisms. Our present experiments on knock-in mice revealed that transgene expression in the LS begins at P33-36 in females and P40-45 in males and is stimulated by estrogen receptor signaling.

Nanopore Sequencing as a Cutting-Edge Technology for Medulloblastoma Classification.

Background: Medulloblastoma (MB) is one of the most prevalent embryonal malignant brain tumors. Current classification organizes these tumors into four molecular subgroups (WNT, SHH, Group 3, and Group 4 MB). Recently, a comprehensive classification has been established, identifying numerous subtypes, some of which exhibit a poor prognosis.

SMCHD1 genetic variants in type 2 facioscapulohumeral dystrophy and challenges in predicting pathogenicity and disease penetrance.

The molecular diagnosis of type 1 facioscapulohumeral muscular dystrophy (FSHD1) relies on the detection of a shortened D4Z4 array at the 4q35 locus. Until recently, the diagnosis of FSHD2 relied solely on the absence of a shortened D4Z4 allele in clinically affected patients. It is now established that most FSHD2 cases carry a heterozygous variant in the SMCHD1 gene.

Heterozygous UBR5 variants result in a neurodevelopmental syndrome with developmental delay, autism, and intellectual disability.

E3 ubiquitin ligases have been linked to developmental diseases including autism, Angelman syndrome (UBE3A), and Johanson-Blizzard syndrome (JBS) (UBR1). Here, we report variants in the E3 ligase UBR5 in 29 individuals presenting with a neurodevelopmental syndrome that includes developmental delay, autism, intellectual disability, epilepsy, movement disorders, and/or genital anomalies. Their phenotype is distinct from JBS due to the absence of exocrine pancreatic insufficiency and the presence of autism, epilepsy, and, in some probands, a movement disorder.

Dipyridamole Ameliorates Memory Impairment and Increases Hippocampal Calbindin Expression in Niemann Pick C1 Mice.

Niemann Pick type C1 (NPC1) is a rare, fatal disorder characterized by endosomal lipid accumulation that leads to damage of both peripheral organs and central nervous system (cerebellum and hippocampus are especially affected). Currently, miglustat is the only approved drug for NPC1, thus the identification of new treatments is mandatory. We have previously demonstrated that the drug dipyridamole (DIP), an enhancer of adenosine signaling, can reduce the pathological phenotype in patient-derived fibroblasts.

Visual Functions in Patients With Leber Hereditary Optic Neuropathy (LHON).

Background: Most of the data on visual functions in Leber hereditary optic neuropathy (LHON) is based on patient questionnaires. Our study assessed the impact of LHON on visual function by testing facial recognition and execution of purposeful actions.

Methods: Twelve participants with LHON with central scotoma ranging from 5° to 20° and 12 unaffected age-matched controls were involved in our study.

Long-Term Clinical and Biological Prognostic Factors of Anti-NMDA Receptor Encephalitis in Children.

Background And Objectives: Anti-NMDAR encephalitis (NMDARE) is a severe neurologic condition, and recently, the NMDAR Encephalitis One-Year Functional Status (NEOS) score has emerged as a 1-year prognostic tool. This study aimed to evaluate NEOS score and biomarker (neurofilament light chains [NfL], total-Tau protein, glial fibrillary acidic protein, and serum cytokines) correlation with modified Rankin Scale (mRS), cognitive impairment, and clinical recovery in pediatric NMDARE over 2 years.

Methods: In this French multicenter observational study, 104 pediatric patients with NMDARE were followed for a minimum of 2 years.

Spinal muscular atrophy is also a disorder of spermatogenesis.

Background: Spinal muscular atrophy (SMA) patients benefit from pre-mRNA splicing modifiers targeting the SMN2 gene, which aims to increase functional SMN production. The animal toxicity affecting spermatogenesis associated with one such treatment raised questions about male SMA patients' spermatogenesis.

Methods: This descriptive, cross-sectional study was conducted from June 2022 to July 2023.

Lasting and extensive consequences of left mesial temporal lobe seizures on electrical cortical activity.

Background And Objectives: Focal epilepsies disrupt long-range networks with seizure recurrence driving both regional and global alterations in connectivity networks. While prior studies have focused on the interictal consequences, limited data exist on the direct aftermath of focal seizures. We hypothesize that mesial temporal lobe seizures lead to enduring cortical disorganization.

Microbiome testing in Europe: navigating analytical, ethical and regulatory challenges.

Background: In recent years, human microbiome research has flourished and has drawn attention from both healthcare professionals and general consumers as the human microbiome is now recognized as having a significant influence on human health. This has led to the emergence of companies offering microbiome testing services. Some of these services are sold directly to the consumer via companies' websites or via medical laboratory websites.

Effect of familiarity and knowledge about epilepsy on associated cultural stereotypes in French society.

People with epilepsy face stigma that impacts numerous aspects of their daily lives. Although the stigma surrounding people with epilepsy has been extensively documented, the mechanisms underlying it-such as cultural stereotypes-remain to be explored. Cultural stereotypes are widely shared beliefs within a cultural context about attributes typically associated with members of a particular group.

Adaptation in communication technology utilization: caring for individuals with chronic conditions in South Asia during the Covid-19 pandemic.

Background: During the Covid-19 pandemic, people with chronic conditions experienced delayed or missed care, while their carers endured social isolation, loneliness, and reduced support. Information communication technology (ICT) can be utilized to encourage continuity of care, address misinformation, and allocate support. This study aimed to identify factors associated with the ICT adaptation of South Asian carers of individuals with chronic conditions by comparing changes in ICT utilization and preferences before and during the pandemic.

Bi-allelic MYMX variants cause a syndromic congenital myopathy with recognizable facial palsy, growth restriction, and dysmorphism.

Myogenic fusion, primarily regulated by the Myomaker and Myomixer proteins, is essential for skeletal muscle development, yet its mechanisms remain poorly understood. This study presents the clinical and molecular details of the third and fourth reported patients with biallelic variants in MYMX, the gene that encodes Myomixer. We identified a homozygous truncating variant [c.

Potential New Expression Biomarkers for Anorexia Nervosa.

Anorexia nervosa (AN) is a psychiatric disorder with an estimated heritability of around 70%. Although the largest meta-analysis of genome-wide association studies on AN identified independent risk-conferring loci for the disorder, the molecular mechanisms underlying the genetic basis of AN remain to be elucidated. To investigate AN, we performed transcriptome profiling in peripheral blood mononuclear cells from 15 AN patients and 15 healthy controls.