Psychometric Validation of the CLN2 Quality of Life Questionnaire in Participants with CLN2 Disease Treated with Cerliponase Alfa [PDF]
Healthcare (Switzerland)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 and BMN 190-202 clinical studies, collected via purposive sampling, were used to assess convergent and ...
Angela Schulz +2 more
exaly +5 more sources
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
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A tailored mouse model of CLN2 disease: A nonsense mutant for testing personalized therapies. [PDF]
PLoS ONE, 2017 The Neuronal Ceroid Lipofuscinoses (NCLs), also known as Batten disease, result from mutations in over a dozen genes. Although, adults are susceptible, the NCLs are frequently classified as pediatric neurodegenerative diseases due to their greater ...
Ryan D Geraets +7 more
doaj +2 more sources
GABAergic interneurons contribute to the fatal seizure phenotype of CLN2 disease mice [PDF]
JCI InsightThe 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 +13 more
doaj +6 more sources
Clinical management and diagnosis of CLN2 disease: consensus of the Brazilian experts group
Arquivos de Neuro-Psiquiatria, 2023 Neuronal ceroid lipofuscinosis type 2 (CLN2) is a rare neurodegenerative genetic disease that affects children in early life. Its classic form is rapidly progressive, leading to death within the first 10 years.
Leticia Pereira de Brito Sampaio +8 more
doaj +3 more sources
Role of Swi4 in cell cycle regulation of CLN2 expression. [PDF]
Molecular and Cellular Biology, 1994 Expression of the Saccharomyces cerevisiae CLN1 and CLN2 genes is cell cycle regulated, and the genes may be controlled by positive feedback. It has been proposed that positive feedback operates via Cln/Cdc28 activation of the Swi4/Swi6 transcription factor, leading to CLN1 and CLN2 transcription due to Swi4 binding to specific sites (SCBs) in the CLN1
Cross, F R +3 more
openaire +4 more sources
Neurofilament light is a treatment‐responsive biomarker in CLN2 disease [PDF]
Annals of Clinical and Translational Neurology, 2019 Objective Neuronal ceroid lipofuscinosis type 2 (CLN2 disease) is a rare, progressive, fatal neurodegenerative pediatric disorder resulting from deficiencies of the lysosomal enzyme tripeptidyl peptidase 1 that are caused by mutations in TPP1 ...
Yuanbin Ru +12 more
doaj +3 more sources
Study of Intraventricular Cerliponase Alfa for CLN2 Disease [PDF]
New England Journal of Medicine, 2018 Recombinant human tripeptidyl peptidase 1 (cerliponase alfa) is an enzyme-replacement therapy that has been developed to treat neuronal ceroid lipofuscinosis type 2 (CLN2) disease, a rare lysosomal disorder that causes progressive dementia in children.In a multicenter, open-label study, we evaluated the effect of intraventricular infusion of ...
Schulz, A +10 more
core +5 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
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Speech, Language and Non‐verbal Communication in CLN2 and CLN3 Batten Disease [PDF]
Journal of Inherited Metabolic DiseaseCLN2 and CLN3 diseases, the most common types of Batten disease (also known as neuronal ceroid lipofuscinosis), are childhood dementias associated with progressive loss of speech, language and feeding skills.
Íngrid Scheffer +2 more
exaly +3 more sources