Results 121 to 130 of about 4,843,979 (151)

MRI in CLN2 disease patients: Subtle features that support an early diagnosis [PDF]

European Journal of Paediatric Neurology, 2020
Neuronal ceroid lipofuscinosis type 2 (CLN2) disease is a rare, paediatric-onset, neurodegenerative disorder characterised in its early stages by language delay, seizures and loss of motor function. It is rapidly progressive and ultimately results in the
Cengiz Havali, Senay Haspolat
exaly   +8 more sources

Study of Intraventricular Cerliponase Alfa for CLN2 Disease [PDF]

New England Journal of Medicine, 2018
BACKGROUND 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
Jonathan Dyke, Angela Schulz, Emily De Los Reyes   +2 more
exaly   +6 more sources

A Novel Porcine Model of CLN2 Batten Disease that Recapitulates Patient Phenotypes

Neurotherapeutics, 2022
CLN2 Batten disease is a lysosomal disorder in which pathogenic variants in CLN2 lead to reduced activity in the enzyme tripeptidyl peptidase 1. The disease typically manifests around 2 to 4 years of age with developmental delay, ataxia, seizures, inability to speak and walk, and fatality between 6 and 12 years of age.
Katherine White, Jill M Weimer, Jon J Brudvig   +2 more
exaly   +3 more sources

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Cerliponase alfa for CLN2 disease, a promising therapy

Expert Opinion on Orphan Drugs, 2020
Introduction: Neuronal ceroid lipofuscinosis type 2 (CLN2) is a rare, lysosomal storage disease that causes progressive neurodegeneration in children.
Nicolas J Abreu, Jonathan Pindrik
exaly   +2 more sources

Speech, Language and Non‐verbal Communication in CLN2 and CLN3 Batten Disease

Journal of Inherited Metabolic Disease
CLN2 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, Adam Vogel, Angela Morgan   +2 more
exaly   +2 more sources

Gene therapy for CLN2 disease

Science, 2020
Gene Therapy Late infantile Batten disease (CLN2 disease), a pediatric progressive brain disorder, is currently treated by infusion of human recombinant tripeptidyl peptidase 1 (TPP1) into the cerebrospinal fluid every other week, which slows but does not halt progression of the disease. Sondhi et al. sought an alternative treatment using gene therapy.
openaire   +1 more source

Mitochondrial abnormalities in CLN2 and CLN3 forms of batten disease

Molecular and Chemical Neuropathology, 1996
The storage of subunit c of mitochondrial ATP synthase, other hydrophobic peptides, and autofluorescent pigment in both late infantile (CLN2) and juvenile (CLN3) neuronal ceroid lipofuscinosis, but not in infantile (CLN1), has raised the question of abnormal mitochondrial function.
G, Dawson, J, Kilkus, A N, Siakotos, I, Singh   +3 more
openaire   +2 more sources

CLN2 Disease: Current Understandings, Challenges, and Future Directions

Journal of Child Neurology
Neuronal ceroid lipofuscinosis type 2 (CLN2) disease is a rare neurodegenerative condition that rapidly progresses with language regression, loss of ambulation, blindness, intractable seizures, and premature death in childhood. Enzyme replacement therapy has transformed the clinical trajectory of CLN2 disease, and early genetic testing is crucial ...
Maria Shock, Elisa Nigro, Elizabeth J Donner, Robyn Whitney   +3 more
openaire   +2 more sources

PD49 Social Preferences In HTA: A Pilot Analysis In CLN2 Disease

International Journal of Technology Assessment in Health Care, 2018
Introduction:It is established that the current cost effectiveness health technology assessment (HTA) paradigm does not appropriately value rare disease technologies. Social willingness-to-pay (SWTP) has been suggested to be higher for rare disease technologies, it's inclusion into existing HTA framework could better reflect social preferences (SP) and
Sumeet Bakshi, Michael Schlander, Harry Telser, Oriol Sola-Morales, Domenico Moro, Thomas Butt, Andrew Olaye, Mohit Jain   +7 more
openaire   +1 more source

CLN2 Disease (Classic Late Infantile Neuronal Ceroid Lipofuscinosis).

Pediatric endocrinology reviews : PER, 2016
CLN2 disease is an inherited metabolic storage disorder caused by the deficiency of the lysosomal enzyme tripeptidyl peptidase 1 (TPP1). The disease affects mainly the brain and the retina and is characterized by progressive dysfunction of the central nervous system, leading to dementia, epilepsy, loss of motor function and blindness.
Alfried, Kohlschütter, Angela, Schulz
openaire   +1 more source