Results 11 to 20 of about 4,843,979 (151)

Psychometric Validation of the CLN2 Quality of Life Questionnaire in Participants with CLN2 Disease Treated with Cerliponase Alfa. [PDF]

Healthcare (Basel)
Objectives: This study evaluated the psychometric properties of the ceroid lipofuscinosis type 2 Quality of Life (CLN2 QoL) questionnaire. Methods: Data from children with CLN2 disease aged 3–16 years receiving cerliponase alfa in the BMN 190-201 ...
Due C, Quinn J, Gissen P, Schulz A, Specchio N, de Los Reyes E, Butt T.   +6 more
europepmc   +5 more sources

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

J Child Neurol, 2021
BackgroundThe 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 ...
Wibbeler E, Wang R, Reyes EL, Specchio N, Gissen P, Guelbert N, Nickel M, Schwering C, Lehwald L, Trivisano M, Lee L, Amato G, Cohen-Pfeffer J, Shediac R, Leal-Pardinas F, Schulz A.   +15 more
europepmc   +11 more sources

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

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   +5 more sources

GABAergic interneurons contribute to the fatal seizure phenotype of CLN2 disease mice [PDF]

JCI Insight
The cellular etiology of seizures in CLN2 disease, a childhood-onset neurodegenerative lysosomal storage disorder caused by a deficiency of tripeptidyl peptidase 1 (TPP1), remains elusive.
Keigo Takahashi, Nicholas R. Rensing, Elizabeth M. Eultgen, Letitia L. Williams, Sophie H. Wang, Hemanth R. Nelvagal, Steven Q. Le, Marie S. Roberts, Balraj Doray, Edward B. Han, Patricia I. Dickson, Michael Wong, Mark S. Sands, Jonathan D. Cooper   +13 more
doaj   +6 more sources

Real-world clinical outcomes of patients with CLN2 disease treated with cerliponase alfa [PDF]

Frontiers in Neurology
IntroductionThis study assessed the real-world effectiveness and safety of the enzyme replacement therapy (ERT), cerliponase alfa, to treat neuronal ceroid lipofuscinosis type 2 (CLN2) disease.MethodsData from the DEM-CHILD database were analyzed ...
Angela Schulz, Angela Schulz, Christoph Schwering, Eva Wibbeler, Lena Marie Westermann, Luca Hagenah, Susanne Lezius, Ashok Jha, Abigail Hunt, Peter Slasor, Pascal Reisewitz, Miriam Nickel   +11 more
doaj   +4 more sources

Visual perception and macular integrity in non-classical CLN2 disease. [PDF]

Graefes Arch Clin Exp Ophthalmol, 2022
Abstract Purpose Patients with CLN2 suffer from epileptic seizures, rapid psychomotor decline and vision loss in early childhood. The aim of the study was to provide longitudinal ophthalmic data of patients with confirmed genetic mutation and non-classical disease course, marked by later onset, protracted progression and
Atiskova Y, Wildner J, Wibbeler E, Nickel M, Spitzer MS, Schwering C, Schulz A, Dulz S.   +7 more
europepmc   +4 more sources

Language Delay in Patients with CLN2 Disease: Could It Support Earlier Diagnosis? [PDF]

Neuropediatrics, 2023
Neuronal ceroid lipofuscinosis type 2 (CLN2 disease) is a rare pediatric disorder associated with rapid neurodegeneration, and premature death in adolescence.
Nickel M, Gissen P, Greenaway R, Cappelletti S, Hamborg C, Ragni B, Ribitzki T, Schulz A, Tondo I, Specchio N.   +9 more
europepmc   +6 more sources

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

Physiotherapy for Children with CLN2 Disease [PDF]

Journal of Inborn Errors of Metabolism and Screening, 2019
CLN2 disease (neuronal ceroid lipofuscinosis type 2) is a rare, genetic, paediatric-onset, neurodegenerative lysosomal storage disorder characterised by seizures, ataxia, rapid loss of motor function and language ability, dementia, visual loss and early ...
Ina von Löbbecke
doaj   +4 more sources

Clinical Pharmacokinetics and Pharmacodynamics of Cerliponase Alfa, Enzyme Replacement Therapy for CLN2 Disease by Intracerebroventricular Administration [PDF]

Clinical and Translational Science, 2021
Cerliponase alfa is recombinant human tripeptidyl peptidase 1 (TPP1) delivered by i.c.v. infusion for CLN2, a pediatric neurodegenerative disease caused by deficiency in lysosomal enzyme TPP1.
Aryun Kim, Anita Grover, Kevin Hammon, Greg deHart, Peter Slasor, Anu Cherukuri, Temitayo Ajayi, David Jacoby, Angela Schulz, Nicola Specchio, Emily deLos Reyes, Paul Gissen, Joshua W. Henshaw   +12 more
doaj   +2 more sources