Results 41 to 50 of about 4,597 (153)

Cerliponase alfa changes the natural history of children with neuronal ceroid lipofuscinosis type 2: The first French cohort

European Journal of Paediatric Neurology, 2021
Neuronal Ceroid Lipofuscinosis type 2 (CLN2) is a neurodegenerative lysosomal disease which leads to early dementia and death without treatment. The recently available therapy consists of intracerebroventricular enzyme substitution: cerliponase alfa. In this report, we describe the evolution of the first French children treated with cerliponase alfa ...
Estublier, Bastien, Cano, Aline, Hoebeke, Célia, Pichard, Samia, Scavarda, Didier, Desguerre, Isabelle, Auvin, Stéphane, Chabrol, Brigitte   +7 more
openaire   +2 more sources

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

Changing Times for CLN2 Disease: The Era of Enzyme Replacement Therapy

Therapeutics and Clinical Risk Management, 2020
Nicola Specchio, Nicola Pietrafusa, Marina Trivisano Rare and Complex Epilepsy Unit, Department of Neuroscience, Bambino Gesù Children’s Hospital, IRCCS, Rome, ItalyCorrespondence: Nicola SpecchioDepartment of Neuroscience, Bambino Ges ...
Specchio N, Pietrafusa N, Trivisano M
doaj  

Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes

Epilepsia Open, EarlyView.
Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola, Marica Rubino, Antonella Riva, Pasquale Striano   +3 more
wiley   +1 more source

Adverse Reactions to the Orphan Drug Cerliponase Alfa in the Treatment of Neurolipofuscinosis Type 2 (CLN2)

Pharmaceuticals
Background/Objectives: Neuronal Ceroid Lipofuscinosis type 2 is a rare pathology affecting mainly the central nervous system (CNS) and retina, and is caused by variants in the gene encoding the lysosomal enzyme tripeptidyl peptidase 1.
Ilaria Ammendolia, Maria Sframeli, Emanuela Esposito, Luigi Cardia, Alberto Noto, Mariaconcetta Currò, Gioacchino Calapai, Maria De Pasquale, Carmen Mannucci, Fabrizio Calapai   +9 more
doaj   +1 more source

Precision therapies for genetic epilepsies in 2025: Promises and pitfalls

Epilepsia Open, EarlyView.
Abstract By targeting the underlying etiology, precision therapies offer an exciting paradigm shift to improve the stagnant outcomes of drug‐resistant epilepsies, including developmental and epileptic encephalopathies. Unlike conventional antiseizure medications (ASMs) which only treat the symptoms (seizures) but have no effect on the underlying ...
Shuyu Wang, Emilio Perucca, Samuel F. Berkovic, Piero Perucca   +3 more
wiley   +1 more source

An Adapted Clinical Measurement Tool for the Key Symptoms of CLN2 Disease

Journal of Inborn Errors of Metabolism and Screening, 2018
Neuronal ceroid lipofuscinosis type-2 (CLN2) disease is a rare, autosomal recessive, pediatric-onset, neurodegenerative lysosomal storage disease caused by mutations in the TPP1 gene.
Kathleen W. Wyrwich PhD, Angela Schulz MD, Miriam Nickel MD, Peter Slasor ScD, Temitayo Ajayi MD, David R. Jacoby MD, PhD, Alfried Kohlschütter MD   +6 more
doaj   +1 more source

Homozygous TBC1 domain-containing kinase (TBCK) mutation causes a novel lysosomal storage disease – a new type of neuronal ceroid lipofuscinosis (CLN15)?

Acta Neuropathologica Communications, 2018
Homozygous mutation of TBC1 domain-containing kinase (TBCK) is the cause of a very recently defined severe childhood disorder, which is characterized by severe hypotonia, global developmental delay, intellectual disability, epilepsy, characteristic ...
Stefanie Beck-Wödl, Klaus Harzer, Marc Sturm, Rebecca Buchert, Olaf Rieß, Hans-Dieter Mennel, Elisabeth Latta, Axel Pagenstecher, Ursula Keber   +8 more
doaj   +1 more source

Presymptomatic treatment of classic late-infantile neuronal ceroid lipofuscinosis with cerliponase alfa

Orphanet Journal of Rare Diseases, 2021
Background Neuronal ceroid lipofuscinosis type 2 (CLN2 disease) is a rare rapidly progressive neurodegenerative disorder, resulting in early death. Intracerebroventricular enzyme replacement therapy (ERT) with cerliponase alfa is now available and has ...
J. Schaefers, L. J. van der Giessen, C. Klees, E. H. Jacobs, S. Sieverdink, M. H. G. Dremmen, J. K. H. Spoor, A. T. van der Ploeg, J. M. P. van den Hout, H. H. Huidekoper   +9 more
doaj   +1 more source

Insights Into Aggregation‐Delayed Phenotype of Dictyostelium discoideum

Cell Biology International, Volume 50, Issue 9, September 2026.
ABSTRACT Dictyostelium discoideum is a cellular model that has been widely used in cell signal research focusing on different cellular and developmental processes. The unique lifecycle of these cells—which involves switching between vegetative and development phases—makes Dictyostelium a reliable model for investigations in this field.
Sarah Abdulaziz Alamer
wiley   +1 more source