Results 71 to 80 of about 4,843,979 (151)

Cerliponase Alfa for the Treatment of Atypical Phenotypes of CLN2 Disease: A Retrospective Case Series [PDF]

, 2020
Background: The classic phenotype of CLN2 disease (neuronal ceroid lipofuscinosis type 2) typically manifests between ages 2 and 4 years with a predictable clinical course marked by epilepsy, language developmental delay, and rapid psychomotor decline.
Lee, L, Cohen-Pfeffer, J, Specchio, N, Reyes, EDL, Wibbeler, E, Amato, G, Schwering, C, Gissen, P, Shediac, R, Lehwald, L, Guelbert, N, Trivisano, M, Wang, R, Nickel, M, Leal-Pardinas, F, Schulz, A   +15 more
core   +1 more source

Extracellular Vesicles as Drug Carriers for Enzyme Replacement Therapy to Treat CLN2 Batten Disease: Optimization of Drug Administration Routes

Cells, 2020
CLN2 Batten disease (BD) is one of a broad class of lysosomal storage disorders that is characterized by the deficiency of lysosomal enzyme, TPP1, resulting in a build-up of toxic intracellular storage material in all organs and subsequent damage.
Matthew J. Haney, Yuling Zhao, Yeon S. Jin, Elena V. Batrakova   +3 more
doaj   +1 more source

Symmetric Age Association of Retinal Degeneration in Patients with CLN2-Associated Batten Disease

Ophthalmology Retina, 2020
Mutations in the CLN2 gene lead to a neurodegenerative and blinding lysosomal storage disorder: late infantile neuronal ceroid lipofucinosis, also known as "CLN2 disease." The purpose of the current study was to characterize the evolution of CLN2-associated retinal manifestations using the Weill Cornell Batten Scale (WCBS) and the age association of ...
Kyle D. Kovacs, Samir Patel, Anton Orlin, Keunpyo Kim, Sherri Van Everen, Therese Conner, Dolan Sondhi, Stephen M. Kaminsky, Donald J. D’Amico, Ronald G. Crystal, Szilárd Kiss   +10 more
openaire   +2 more sources

Trial Readiness: Understanding the Natural History of Rare Diseases

Journal of Inherited Metabolic Disease, Volume 48, Issue 6, November 2025.
ABSTRACT Inherited metabolic diseases (IMD) represent the largest and still growing group of treatable genetic disorders and are increasingly amenable to targeted interventions that achieve varying degrees of prognostic improvement. Innovative therapies are on the horizon and offer promising opportunities for disease‐changing treatment for a variety of
Thomas Opladen, Ulrike Mütze, Florian Gleich, Sven F. Garbade, Oya Kuseyri Hübschmann, Matthias Zielonka, Stefan Kölker   +6 more
wiley   +1 more source

Cerebrospinal fluid neurofilament light levels in CLN2 disease patients treated with enzyme replacement therapy normalise after two years on treatment [version 1; peer review: 1 approved with reservations] [PDF]

, 2021
Classic late infantile neuronal ceroid lipofuscinosis (CLN2 disease) is caused by a deficiency of tripeptidyl-peptidase-1. In 2017, the first CLN2 enzyme replacement therapy (ERT) cerliponase alfa (Brineura) was approved by the FDA and EMA.
Lee, Laura, Lee, L, Zetterberg, H, Iwan, Katharina, Zetterberg, Henrik, Heywood, WE, Borisova, M, Mole, Sara E, Heywood, Wendy E, Heslegrave, A, Heslegrave, Amanda, Mills, Kevin, Patel, Nina, Mills, Philippa B, Bower, R, Gissen, P, Bower, Rebecca, Gissen, Paul, Borisova, Mina, Mills, PB, Mills, K, Mole, SE, Iwan, K, Patel, N   +23 more
core   +1 more source

Flupirtine derivatives as potential treatment for the neuronal ceroid lipofuscinoses

Annals of Clinical and Translational Neurology, 2018
Objective Neuronal Ceroid Lipofuscinoses (NCL) are fatal inherited neurodegenerative diseases with established neuronal cell death and increased ceramide levels in brain, hence, a need for disease‐modifying drug candidates, with potential to enhance ...
Joelle Makoukji, Fadi Saadeh, Karl Albert Mansour, Sally El‐Sitt, Jamal Al Ali, Nihar Kinarivala, Paul C. Trippier, Rose‐Mary Boustany   +7 more
doaj   +1 more source

MR‐Guidance of Gene Therapy for Brain Diseases: Moving From Palliative Treatment to Cures

Journal of Magnetic Resonance Imaging, Volume 62, Issue 5, Page 1280-1295, November 2025.
ABSTRACT Regulatory bodies in the U.S. and Europe recently approved a gene therapy for aromatic L‐amino acid decarboxylase (AADC) deficiency, a rare neurologic disorder where a genetic mutation prevents dopamine production in the brain. Affected children fail to develop normal motor and cognitive functions.
Dalton H. Bermudez, Thomas Lilieholm, Walter F. Block   +2 more
wiley   +1 more source

Seizures and electroencephalographic findings in inborn errors of metabolism: Clues to differential diagnosis in the neonatal period, infancy, childhood and adolescence, and review of the literature

Epileptic Disorders, Volume 27, Issue 5, Page 745-802, October 2025.
Abstract Although inborn errors of metabolism (IEM) are a rare cause of epilepsy, seizures are a common presentation in these disorders. Seizures in IEM are frequently refractory to conventional anti‐seizure medication and might warrant initiation of specific treatments based on vitamins or dietary modifications or provision of alternative substrates ...
D. Kapoor, S. Sharma, A. Kaminska, R. Nabbout, N. Chemaly, M. Schiff, P. De Lonlay, M. Eisermann   +7 more
wiley   +1 more source

Gene therapy ameliorates spontaneous seizures associated with cortical neuron loss in a Cln2R207X mouse model

The Journal of Clinical Investigation, 2023
Although a disease-modifying therapy for classic late infantile neuronal ceroid lipofuscinosis (CLN2 disease) exists, poor understanding of cellular pathophysiology has hampered the development of more effective and persistent therapies.
Keigo Takahashi, Elizabeth M. Eultgen, Sophie H. Wang, Nicholas R. Rensing, Hemanth R. Nelvagal, Joshua T. Dearborn, Olivier Danos, Nicholas Buss, Mark S. Sands, Michael Wong, Jonathan D. Cooper   +10 more
doaj   +1 more source

Seminar in Epileptology: Normal awake and sleep patterns, interictal abnormalities, and ictal patterns on scalp EEG

Epileptic Disorders, Volume 27, Issue 5, Page 803-866, October 2025.
Abstract The accurate interpretation of scalp EEG remains an instrumental diagnostic component of epilepsy care. Knowledge of what constitutes normal EEG findings, non‐epileptiform abnormalities, and epileptiform patterns—both ictal and interictal—is essential for appropriate patient management.
Juan Luis Alcala‐Zermeno, Roohi Katyal, Birgit Frauscher, Donald Schomer, Michael R. Sperling, Roy Strowd, William O. Tatum, Elaine Wirrell, Sándor Beniczky, Fábio A. Nascimento   +9 more
wiley   +1 more source