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D1 dopamine receptor antagonists as a new therapeutic strategy to treat autistic-like behaviours in lysosomal storage disorders.
Mol Psychiatry
January 2025
Telethon Institute of Genetics and Medicine, Via Campi Flegrei 34, Pozzuoli, 80078, Naples, Italy.
Lysosomal storage disorders characterized by defective heparan sulfate (HS) degradation, such as Mucopolysaccharidosis type IIIA-D (MPS-IIIA-D), result in neurodegeneration and dementia in children. However, dementia is preceded by severe autistic-like behaviours (ALBs), presenting as hyperactivity, stereotypies, social interaction deficits, and sleep disturbances. The absence of experimental studies on ALBs' mechanisms in MPS-III has led clinicians to adopt symptomatic treatments, such as antipsychotics, which are used for non-genetic neuropsychiatric disorders.
View Article and Find Full Text PDFIntegrating 16S rRNA Gene Sequencing and Metabolomics Analysis to Reveal the Mechanism of L-Proline in Preventing Autism-like Behavior in Mice.
Nutrients
January 2025
Key Laboratory of Precision Nutrition and Food Quality, Key Laboratory of Functional Dairy, Ministry of Education, College of Food Science and Nutritional Engineering, China Agricultural University, Beijing 100083, China.
Background/objectives: Autism spectrum disorder (ASD) is characterized by impaired social interaction and repetitive stereotyped behavior. Effective interventions for the core autistic symptoms are currently limited.
Methods: This study employed a valproic acid (VPA)-induced mouse model of ASD to assess the preventative effects of L-proline supplementation on ASD-like behaviors.
Electroencephalographic and Epilepsy Findings in ZNF711 Variants: A Case Series of Two Siblings.
Neurol Int
January 2025
Clinical Pediatrics, Department of Molecular Medicine and Development, University of Siena, Azienda Ospedaliero-Universitaria Senese, 53100 Siena, Italy.
Background/objectives: ZNF711(Zinc finger protein 711) encodes a zinc finger protein of currently undefined function, located on the X chromosome. Current knowledge includes a limited number of case reports where this gene has been exclusively associated with X-linked intellectual disability (XLID). As far as we are aware, we report the first cases of epilepsy associated with this particular variant.
View Article and Find Full Text PDFLong-Term Multimodal Exercise Intervention for Patients with Frontotemporal Lobar Degeneration: Feasibility and Preliminary Outcomes.
Dement Geriatr Cogn Dis Extra
December 2024
Division of Clinical Medicine, Department of Psychiatry, Institute of Medicine, University of Tsukuba, Tsukuba, Japan.
Introduction: After Alzheimer's disease, frontotemporal lobar degeneration (FTLD) is the second most common form of early-onset dementia. Despite the heavy burden of care for FTLD, pharmacological and non-pharmacological treatments with sufficient efficacy remain scarce. This study aimed to evaluate the feasibility of a multimodal exercise program for FTLD and to examine preliminary changes in the clinical outcomes of the program in FTLD.
View Article and Find Full Text PDFComprehensive assessment reveals numerous clinical and neurophysiological differences between MECP2-allelic disorders.
Ann Clin Transl Neurol
January 2025
Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, 77030, USA.
Objective: Rett syndrome (RTT) and MECP2 duplication syndrome (MDS) result from under- and overexpression of MECP2, respectively. Preclinical studies using genetic-based treatment showed robust phenotype recovery for both MDS and RTT. However, there is a risk of converting MDS to RTT, or vice versa, if accurate MeCP2 levels are not achieved.
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