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Neurological and psychiatric phenotype of a multicenter cohort of patients with SETD5-related neurodevelopmental disorder.
Eur J Paediatr Neurol
November 2024
Child Neurology and Psychiatry, Department of Translational Medical Sciences, University of Naples Federico II, Naples, Italy. Electronic address:
Article Synopsis
- - Pathogenic variants in the SETD5 gene are linked to a neurodevelopmental disorder presenting intellectual disability, autism, and facial dysmorphisms, with some symptoms not appearing in every individual (incomplete penetrance).
- - A study of 28 patients revealed various neurological symptoms, including low muscle tone (hypotonia), movement disorders, gait issues, and epilepsy in 14% of cases; cognitive impairments ranged from mild to severe in most participants.
- - The research expands on existing literature to propose a correlation between specific gene variations (genotype) and the observed symptoms (phenotype) in SETD5-related disorders.
Parthenolide ameliorates 3-nitropropionic acid-induced Huntington's disease-like aberrations via modulating NLRP3 inflammasome, reducing microglial activation and inducing astrocyte shifting.
Mol Med
September 2024
Biochemistry Department, Faculty of Pharmacy, Cairo University, Kasr El-Ainy St., Cairo, 11562, Egypt.
Article Synopsis
- Huntington's disease (HD) is a progressive brain disorder with no effective treatments, and the inflammasome NLRP3's role in HD is not well understood.
- This study tested the effects of Parthenolide (PTL), a natural compound that might inhibit NLRP3, on symptoms induced by 3-nitropropionic acid (3NP) in rats.
- Results showed that PTL improved behavioral and cognitive functions, protected neurons, and altered specific biochemical markers associated with neuroprotection in the striatum of the rats.
Systematic review of phenotypes in McLeod syndrome and case report of a progressive supranuclear palsy in a female carrier.
Orphanet J Rare Dis
August 2024
Department of Neurology, University Hospital Zurich, Frauenklinikstrasse 26, 8091, Zurich, Switzerland.
Introduction: We present a systematic review of phenotypes of McLeod syndrome (MLS) and a case of a 73-year-old female carrier of the genetic alteration leading to MLS with the typical progressive supranuclear palsy (PSP) phenotype.
Methods: To facilitate clinical reasoning and enable targeted diagnosis, we conducted a systematic review of the papers describing symptomatic cases of confirmed McLeod syndrome. This review follows the PRISMA 2020 statement: an updated guideline for reporting systematic reviews (Page et al in Syst Rev 10(1):89, 2021).
Assessment of the diagnostic utility of the electroencephalogram in pediatric emergencies.
Neurologia (Engl Ed)
August 2024
Sección de Neurología, Centro de Medicina del Sueño, Hospital Universitario Infanta Sofía, San Sebastián de los Reyes, Madrid, Spain.
Article Synopsis
- This study analyzes the effectiveness of urgent EEGs in diagnosing neurological issues in children under 16 at a medical center in 2022.
- Out of 388 total patients, 70 were children, with various reasons for seeking EEGs, including febrile seizures and suspected epilepsy; over half of the EEGs recorded were normal.
- The findings suggest that a significant portion of the EEGs revealed abnormalities related to epilepsy or seizure disorders, while cases with high suspicion of syncope or paroxysmal disorders showed no EEG issues, indicating the selective utility of EEG in emergency contexts.
Silymarin ameliorates motor function and averts neuroinflammation-induced cell death in the rat model of Huntington's disease.
Brain Res Bull
October 2024
Neuroscience Research Center, Baqiyatallah University of Medical Sciences, Tehran, Iran. Electronic address:
Huntington's disease (HD) is a scarce neurodegenerative disorder defined by chorea (unusual involuntary movements), behavioral presentations, psychiatric features, and cognitive deterioration. Although the precise pathogenic mechanism behind HD has not yet been identified, the most widely acknowledged pathways include excitotoxicity, mitochondrial malfunction, neuroinflammation, neurochemical imbalance, oxidative stress, and apoptosis HD has no efficient therapy. Current medications have drawbacks.
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