Search

Researchers from Bezmialem Vakif University School of Medicine conducted a study on children with Neuronal Ceroid Lipofuscinosis (NCL) using diffusion tensor imaging (DTI) to evaluate visual pathway damage. The study found significant differences in fractional anisotropy (FA), apparent diffusion coefficient (ADC), and radial diffusivity (RD) values in NCL subjects compared to healthy controls. The research suggests that early detection of visual damage in NCL children is crucial, and DTI may provide valuable insights into the underlying pathophysiology of visual deterioration in NCL and other neurodegenerative diseases. [Extracted from the article]

Research from the Eye Research Center has provided new data on Neuronal Ceroid Lipofuscinoses, specifically focusing on a case report of a 5-year-old girl who initially presented with retinal degeneration as the first symptom of NCL7. The girl rapidly progressed to near total bilateral blindness, followed by seizures and cognitive impairment, leading to a diagnosis of NCL7 due to a mutation in the MFSD8 gene. This case highlights the importance of considering NCLs as a potential diagnosis in cases of cone-rod dystrophy and visual loss, emphasizing the early onset of retinal degeneration associated with NCL7. [Extracted from the article]

A recent study conducted at the Indira Gandhi Institute of Child Health in Karnataka, India, reported a rare case of Neuronal Ceroid Lipofuscinosis-Type 1 (NCL-1) with Vitamin D-Dependent Rickets-Type 1 (VDDR-1) in a 3-year-old boy. The child presented with seizures, delayed development, vision impairment, and various neurological symptoms. The study identified complex-1 mitochondrial deficiency in the child, a novel association not previously reported in the literature. Treatment involved a combination of medications and supplements, leading to some improvement in the child's condition. [Extracted from the article]

A new report discusses research findings on Neuronal Ceroid Lipofuscinoses (NCL), a group of nervous system diseases. The study was conducted at the Department of Pediatric Neurology at Children's Hospital and University of Child Health Sciences in Lahore, Pakistan. The researchers aimed to unravel the clinical and genetic specifications of NCL. They found that 32.7% of the 153 patients diagnosed with NCL had a pathologic mutation. The most common type of NCL was CLN6, followed by CLN2 and CLN7. The study suggests that a clinically-oriented approach should be used for rapid diagnosis and genetic counseling. [Extracted from the article]

A recent study conducted at the University of Tokyo in Japan has explored the use of intraventricular cerliponase alfa treatment in a patient with advanced-stage Neuronal Ceroid Lipofuscinosis Type 2 (CLN2). CLN2 is a lysosomal disease caused by decreased activity of the enzyme TPP1. The study found that cerliponase alfa showed potential efficacy and safety in preventing motor and language function decline in advanced-stage CLN2. This research provides valuable insights into the treatment of this condition and may contribute to future advancements in managing Neuronal Ceroid Lipofuscinosis. [Extracted from the article]

A new study conducted in Croatia has examined the early symptoms and treatment outcomes of neuronal ceroid lipofuscinoses (CLN2), a rare neurodegenerative disease that primarily affects children between the ages of 2 and 4. The disease leads to seizures and a progressive loss of language and motor functions, ultimately resulting in blindness and death in late childhood. The study found that treatment with intracerebroventricular cerliponase alfa can slow the deterioration of motor and language functions compared to the natural progression of the disease. Early diagnosis and timely treatment initiation are crucial for improving outcomes in children with CLN2. [Extracted from the article]

A recent study conducted by the Institute of Cardiology focused on neuronal ceroid lipofuscinoses (CLN2), a group of neurodegenerative lysosomal storage disorders. The researchers aimed to identify pathological variants in the TPP1 gene that contribute to the development of CLN2 disease in Ukrainian patients and compare them with variants found in patients from other regions. Through clinical data collection, enzyme analysis, and genotyping, the researchers profiled the phenotypes and genotypes of 48 CLN2-affected individuals. The study found that predicting the type and clinical course of the disease based on genotype is complex, and the data obtained contributes to existing knowledge on genotype-phenotypic correlations in this rare disease. This research lays the foundation for a personalized approach to managing CLN2 disease. [Extracted from the article]

A recent study conducted at Hospital Pequeno Principe in Curitiba, Brazil, examined the phenotypic and genotypic characteristics of children with neuronal ceroid lipofuscinoses (CLNs), a group of genetic lysosomal storage disorders characterized by neurodegeneration and the accumulation of lipopigment. The study analyzed medical records, imaging, and laboratory tests of 11 patients from nine families with different subtypes of CLNs. The researchers identified 16 mutation variants in genes associated with CLNs, with varying clinical phenotypes depending on the subtype and its variants. The study concluded that the novel mutations found in the patients exhibited rapid and severe progression, consistent with previous literature. [Extracted from the article]

Researchers from Nationwide Children's Hospital in Columbus, Ohio have conducted a study on the natural history and progression of Neuronal Ceroid Lipofuscinoses (NCL) Type 6, a neurodegenerative lysosomal storage disease. The study analyzed the disease progression of 25 patients with late-infantile-onset CLN6 disease and found that the median age of decline in motor and language function was 42 months. The study provides valuable data that may be used in future interventional trials to slow the progression of this devastating disease. The research was supported by the Charlotte and Gwenyth Gray Foundation. [Extracted from the article]

A recent study conducted by researchers at the University of Illinois Chicago explores the relationship between synaptic dysfunction and neuroinflammatory signaling in infantile neuronal ceroid lipofuscinosis (CLN1), a pediatric neurodegenerative condition. The study focuses on the role of the depalmitoylating enzyme, palmitoyl-protein thioesterase 1 (PPT1), in regulating protein trafficking and degradation. The researchers found that the absence of depalmitoylation leads to synaptic protein trafficking disruption and contributes to neuroinflammation through an Akap5-associated mechanism. The study suggests that targeting the upstream regulator of neuroinflammation, calcineurin, with the FDA-approved therapeutic FK506 (Tacrolimus), may provide some improvement in neuroinflammation in CLN1. [Extracted from the article]

A recent study conducted at the University of Illinois has investigated the role of depalmitoylation in the regulation of protein turnover and its impact on synaptic transmission and plasticity in a mouse model of infantile neuronal ceroid lipofuscinosis (CLN1). The study found that the absence of the depalmitoylating enzyme palmitoyl-protein thioesterase 1 (PPT1) led to abnormal recruitment of cortical activity and maladaptive homeostatic plasticity. These findings provide insights into the pathogenesis of CLN1 and highlight the importance of PPT1 in AMPAR trafficking. The research has been published in the Journal of Neuroscience and has undergone peer review. [Extracted from the article]

A recent study conducted by researchers at the University of Rochester School of Medicine and Dentistry focused on assessing the integrity of auditory sensory memory processing in individuals with CLN3 disease, also known as juvenile neuronal ceroid lipofuscinosis. The researchers hypothesized that the duration-evoked mismatch negativity (MMN) of the event-related potential (ERP) could serve as a brain-based biomarker for cortical processing abnormalities in this population. The study found that individuals with CLN3 disease showed robust MMN responses at a medium stimulation rate, but reduced or undetectable MMN at faster and slower rates, indicating emerging insufficiencies in the auditory perceptual system. This research provides valuable insights into the auditory processing abilities of individuals with CLN3 disease. [Extracted from the article]

A recent study conducted at the University Medical Center Hamburg-Eppendorf in Germany examined the long-term safety and efficacy of cerliponase alfa, an enzyme replacement therapy, in children with neuronal ceroid lipofuscinosis type 2 (CLN2 disease). The study included 24 participants who received cerliponase alfa for a mean of 5 years. The results showed that treated patients experienced a significant slowing of decline in motor and language function compared to historical untreated controls. Although the study did not have a contemporaneous control group, it provides important insights into the effects of long-term treatment. [Extracted from the article]

A recent study conducted at the Capital Institute of Pediatrics in Beijing, China, explored the use of haploidentical hematopoietic stem cell transplantation (HSCT) combined with post-transplant cyclophosphamide (PT/Cy) in the treatment of Neuronal Ceroid Lipofuscinoses (NCLs), a rare lysosomal storage disorder. The study involved eight pediatric patients with NCLs who underwent the procedure. The results showed that the treatment was safe and effective, with all patients achieving full donor chimerism and experiencing no severe transplantation-related complications. However, the progression of mental motor disorders, myoclonic seizures, and vision loss continued, albeit at a slower rate, after transplantation. The study concluded that early transplantation is crucial for improving the survival quality of pediatric patients with NCLs. [Extracted from the article]

A recent study conducted by researchers at Tehran University of Medical Sciences in Iran has identified a novel pathogenic variant in the TPP1 gene that causes Neuronal Ceroid Lipofuscinosis 2 (NCL2) disease. The study included 45 patients with cerebellar ataxia, with the majority of cases being born to consanguineous parents. The researchers used next-generation sequencing to confirm the diagnosis and found that only one patient had the novel pathogenic variant. Early diagnosis of NCL2 could lead to improved personalized-based treatments. The study was supported by NIMAD and has been peer-reviewed. [Extracted from the article]

Researchers at Tokyo Women's Medical University have published a study on neuronal ceroid lipofuscinoses (NCLs), a neurodegenerative disorder characterized by psychomotor deterioration, ataxia, epilepsy, and visual impairment. The study focuses on two Japanese siblings with juvenile-onset CLN1 associated with type II diabetes mellitus. The patients exhibited visual impairment, learning disabilities, and retinitis pigmentosa, and brain imaging showed significant atrophy. The study suggests a possible correlation between CLN1 and diabetes mellitus, indicating that mitochondrial abnormalities may be involved in insulin resistance and the development of type II diabetes. Further research is needed to confirm this correlation. [Extracted from the article]

Keywords: Montreal; Canada; North and Central America; Biological Factors; Biological Pigments; Cells; Central Nervous System Diseases and Conditions; Ceroid; Genetics; Health and Medicine; Inborn Brain Diseases and Conditions; Inborn Errors Metabolism; Lipid Metabolism Disorders; Lipidoses; Lipofuscin; Metabolic; Metabolic Diseases and Conditions; Nervous System Diseases and Conditions; Neuronal Ceroid Lipofuscinoses; Neurons; Nutritional and Metabolic Diseases and Conditions; Pathology; Peroxisomal Diseases and Conditions EN Montreal Canada North and Central America Biological Factors Biological Pigments Cells Central Nervous System Diseases and Conditions Ceroid Genetics Health and Medicine Inborn Brain Diseases and Conditions Inborn Errors Metabolism Lipid Metabolism Disorders Lipidoses Lipofuscin Metabolic Metabolic Diseases and Conditions Nervous System Diseases and Conditions Neuronal Ceroid Lipofuscinoses Neurons Nutritional and Metabolic Diseases and Conditions Pathology Peroxisomal Diseases and Conditions 510 510 1 06/19/23 20230623 NES 230623 2023 JUN 23 (NewsRx) -- By a News Reporter-Staff News Editor at Genomics & Genetics Weekly -- Current study results on Nutritional and Metabolic Diseases and Conditions - Peroxisomal Diseases and Conditions have been published. For more information on this research see: Sca34 Caused By Elovl4 L168f Mutation Is a Lysosomal Lipid Storage Disease Sharing Pathology Features With Neuronal Ceroid Lipofuscinosis and Peroxisomal Disorders. [Extracted from the article]

Keywords for this news article include: Piscataway, New Jersey, United States, North and Central America, Biological Factors, Biological Pigments, Ceroid, Health and Medicine, Lipid Metabolism Disorders, Lipidoses, Lipofuscin, Nervous System Diseases and Conditions, Neuronal Ceroid Lipofuscinoses, Nutritional and Metabolic Diseases and Conditions, Rutgers University - The State University of New Jersey. Keywords: Piscataway; State:New Jersey; United States; North and Central America; Biological Factors; Biological Pigments; Ceroid; Health and Medicine; Lipid Metabolism Disorders; Lipidoses; Lipofuscin; Nervous System Diseases and Conditions; Neuronal Ceroid Lipofuscinoses; Nutritional and Metabolic Diseases and Conditions EN Piscataway State:New Jersey United States North and Central America Biological Factors Biological Pigments Ceroid Health and Medicine Lipid Metabolism Disorders Lipidoses Lipofuscin Nervous System Diseases and Conditions Neuronal Ceroid Lipofuscinoses Nutritional and Metabolic Diseases and Conditions 525 525 1 05/22/23 20230526 NES 230526 2023 MAY 26 (NewsRx) -- By a News Reporter-Staff News Editor at Drug Week -- Current study results on Nervous System Diseases and Conditions - Neuronal Ceroid Lipofuscinoses have been published. Piscataway, State:New Jersey, United States, North and Central America, Biological Factors, Biological Pigments, Ceroid, Health and Medicine, Lipid Metabolism Disorders, Lipofuscin, Lipidoses, Nervous System Diseases and Conditions, Neuronal Ceroid Lipofuscinoses, Nutritional and Metabolic Diseases and Conditions. [Extracted from the article]

Chicago, State:Illinois, United States, North and Central America, Antihyperlipidemic Agents, Biological Factors, Biological Pigments, Carboxylic Acids, Ceroid, Clofibric Acid, Drugs and Therapies, Fibric Acid Derivatives, Gemfibrozil, Gemfibrozil Therapy, Health and Medicine, Lipid Metabolism Disorders, Lipofuscin, Nervous System Diseases and Conditions, Neuronal Ceroid Lipofuscinoses, Lipidoses, Nutritional and Metabolic Diseases and Conditions, Organic Chemicals, Pentanoic Acids, Pharmaceuticals Keywords: Chicago; State:Illinois; United States; North and Central America; Antihyperlipidemic Agents; Biological Factors; Biological Pigments; Carboxylic Acids; Ceroid; Clofibric Acid; Drugs and Therapies; Fibric Acid Derivatives; Gemfibrozil; Gemfibrozil Therapy; Health and Medicine; Lipid Metabolism Disorders; Lipidoses; Lipofuscin; Nervous System Diseases and Conditions; Neuronal Ceroid Lipofuscinoses; Nutritional and Metabolic Diseases and Conditions; Organic Chemicals; Pentanoic Acids; Pharmaceuticals EN Chicago State:Illinois United States North and Central America Antihyperlipidemic Agents Biological Factors Biological Pigments Carboxylic Acids Ceroid Clofibric Acid Drugs and Therapies Fibric Acid Derivatives Gemfibrozil Gemfibrozil Therapy Health and Medicine Lipid Metabolism Disorders Lipidoses Lipofuscin Nervous System Diseases and Conditions Neuronal Ceroid Lipofuscinoses Nutritional and Metabolic Diseases and Conditions Organic Chemicals Pentanoic Acids Pharmaceuticals 1676 1676 1 05/08/23 20230512 NES 230512 2023 MAY 12 (NewsRx) -- By a News Reporter-Staff News Editor at Drug Week -- New research on Nervous System Diseases and Conditions - Neuronal Ceroid Lipofuscinoses is the subject of a report. According to the news reporters, the research concluded: "These results suggest that activation of PPARa may be beneficial for JNCL and that gemfibrozil may be repurposed for the treatment of this incurable disease.". [Extracted from the article]

Keywords: Biological Factors; Biological Pigments; Biomarkers; Cells; Ceroid; Diagnostics and Screening; Drugs and Therapies; Enzyme Replacement Therapy; Health and Medicine; Lipid Metabolism Disorders; Lipidoses; Lipofuscin; Nervous System Diseases and Conditions; Neuronal Ceroid Lipofuscinoses; Neurons; Nutritional and Metabolic Diseases and Conditions EN Biological Factors Biological Pigments Biomarkers Cells Ceroid Diagnostics and Screening Drugs and Therapies Enzyme Replacement Therapy Health and Medicine Lipid Metabolism Disorders Lipidoses Lipofuscin Nervous System Diseases and Conditions Neuronal Ceroid Lipofuscinoses Neurons Nutritional and Metabolic Diseases and Conditions 2075 2075 1 03/24/23 20230217 NES 230217 2023 FEB 17 (NewsRx) -- By a News Reporter-Staff News Editor at Drug Week -- Investigators publish new report on neuronal ceroid lipofuscinoses. According to the news reporters, the research concluded: "Here, we proposed the use of the proportion of cells with abnormal storage as a biomarker of response to therapy in CLN2. Biological Factors, Biological Pigments, Biomarkers, Cells, Ceroid, Diagnostics and Screening, Drugs and Therapies, Enzyme Replacement Therapy, Health and Medicine, Lipid Metabolism Disorders, Lipofuscin, Nervous System Diseases and Conditions, Neuronal Ceroid Lipofuscinoses, Neurons, Nutritional and Metabolic Diseases and Conditions, Lipidoses. [Extracted from the article]

Universita Cattolica del Sacro Cuore Researcher Yields New Study Findings on Neuronal Ceroid Lipofuscinoses (Linear Diagnostic Procedure Elicited by Clinical Genetics and Validated by mRNA Analysis in Neuronal Ceroid Lipofuscinosis 7 Associated ...) Keywords: Universita Cattolica del Sacro Cuore; Rome; Italy; Europe; Genetics; Lipidoses; Biological Factors; Biological Pigments; Health and Medicine; Diagnostics and Screening; Lipid Metabolism Disorders; Neuronal Ceroid Lipofuscinoses; Nervous System Diseases and Conditions; Nutritional and Metabolic Diseases and Conditions; Ceroid; Lipofuscin EN Universita Cattolica del Sacro Cuore Rome Italy Europe Genetics Lipidoses Biological Factors Biological Pigments Health and Medicine Diagnostics and Screening Lipid Metabolism Disorders Neuronal Ceroid Lipofuscinoses Nervous System Diseases and Conditions Nutritional and Metabolic Diseases and Conditions Ceroid Lipofuscin New study results on neuronal ceroid lipofuscinoses have been published. Universita Cattolica del Sacro Cuore, Rome, Italy, Europe, Genetics, Biological Factors, Biological Pigments, Health and Medicine, Diagnostics and Screening, Lipid Metabolism Disorders, Neuronal Ceroid Lipofuscinoses, Nervous System Diseases and Conditions, Nutritional and Metabolic Diseases and Conditions, Ceroid, Lipidoses, Lipofuscin. [Extracted from the article]