Results 21 to 30 of about 4,913 (183)

Magnetic resonance brain volumetry biomarkers of CLN2 Batten disease identified with miniswine model

Scientific Reports, 2023
Late-infantile neuronal ceroid lipofuscinosis type 2 (CLN2) disease (Batten disease) is a rare pediatric disease, with symptom development leading to clinical diagnosis.
Kevin Knoernschild, Hans J. Johnson, Kimberly E. Schroeder, Vicki J. Swier, Katherine A. White, Takashi S. Sato, Christopher S. Rogers, Jill M. Weimer, Jessica C. Sieren   +8 more
doaj   +2 more sources

A Case Report on the Challenging Diagnosis of Neuronal Ceroid Lipofuscinosis Type 2 (CLN2) [PDF]

Journal of Inborn Errors of Metabolism and Screening, 2020
Neuronal ceroid lipofuscinoses (NCLs), also referred as “Batten disease”, are a group of thirteen rare genetic conditions, which are part of the lysosomal storage disorders.
Andrea Nunes, Joanna Meira, Caio Cunha, Marielza Veiga, Ana Paula Scholz de Magalhães, Diana Rojas Málaga, Roberto Giugliani, Emília Katiane Embiruçu Leão   +7 more
doaj   +3 more sources

An ERG and OCT study of neuronal ceroid lipofuscinosis CLN2 Battens retinopathy [PDF]

Eye, 2021
Abstract Background Late infantile neuronal ceroid lipofuscinosis (CLN2 Batten disease) is a rare, progressive neurodegenerative disease of childhood. The natural history of motor and language regression is used to monitor the efficacy of CNS treatments. Less is known about CLN2 retinopathy.
Dorothy A. Thompson, Siân E. Handley, Robert H. Henderson, Oliver R. Marmoy, Paul Gissen   +4 more
core   +6 more sources

Guidelines on the diagnosis, clinical assessments, treatment and management for CLN2 disease patients [PDF]

Orphanet Journal of Rare Diseases, 2021
Background CLN2 disease (Neuronal Ceroid Lipofuscinosis Type 2) is an ultra-rare, neurodegenerative lysosomal storage disease, caused by an enzyme deficiency of tripeptidyl peptidase 1 (TPP1).
Sara E. Mole, Angela Schulz, Eben Badoe, Samuel F. Berkovic, Emily C. de Los Reyes, Simon Dulz, Paul Gissen, Norberto Guelbert, Charles M. Lourenco, Heather L. Mason, Jonathan W. Mink, Noreen Murphy, Miriam Nickel, Joffre E. Olaya, Maurizio Scarpa, Ingrid E. Scheffer, Alessandro Simonati, Nicola Specchio, Ina Von Löbbecke, Raymond Y. Wang, Ruth E. Williams   +20 more
doaj   +6 more sources

Neuronal Ceroid Lipofuscinosis Type 2: A Case Series from Argentina

Journal of Inborn Errors of Metabolism and Screening, 2022
Neuronal ceroid lipofuscinosis type 2 (CLN2) disease is a rare autosomal recessive neurodegenerative disorder caused by mutations in the CLN2/TPP1 gene, leading to a deficiency in tripeptidyl peptidase 1 activity.
Guillermo Guelbert, Norberto Guelbert
doaj   +1 more source

Cerebrospinal fluid neurofilament light chain levels in CLN2 disease patients treated with enzyme replacement therapy normalise after two years on treatment [version 2; peer review: 2 approved]

F1000Research, 2022
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.
Wendy E. Heywood, Katharina Iwan, Kevin Mills, Nina Patel, Sara E. Mole, Philippa B. Mills, Henrik Zetterberg, Amanda Heslegrave, Mina Borisova, Laura Lee, Paul Gissen, Rebecca Bower   +11 more
doaj   +1 more source

Acidified drinking water improves motor function, prevents tremors and changes disease trajectory in Cln2 R207X mice, a model of late infantile Batten disease

Scientific Reports, 2023
Batten disease is a group of mostly pediatric neurodegenerative lysosomal storage disorders caused by mutations in the CLN1–14 genes. We have recently shown that acidified drinking water attenuated neuropathological changes and improved motor function in
Attila D. Kovács, Jose L. Gonzalez Hernandez, David A. Pearce   +2 more
doaj   +1 more source

Chronic oral cannabidiol delays seizure onset and reduces seizure burden in a mouse model of CLN2 disease. [PDF]

PLoS One
A growing body of literature describes the anti-inflammatory, neuroprotective, and anti-epileptic properties of the cannabis sativa constituent cannabidiol, suggesting that it might play a ...
Dearborn JT, Takahashi K, Rensing NR, Wong M, Cooper JD, Sands MS.   +5 more
europepmc   +2 more sources

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

Impact of the COVID-19 pandemic on access to the cerliponase alfa managed access agreement in England for CLN2 treatment

Orphanet Journal of Rare Diseases, 2022
Background Cerliponase alfa, an enzyme replacement therapy for neuronal ceroid lipofuscinosis type 2 (CLN2), is currently available in England through a managed access agreement (MAA).
Amanda Mortensen, Eva M. Raebel, Samantha Wiseman   +2 more
doaj   +1 more source