Results 31 to 40 of about 4,843,979 (151)

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

Twenty-Year Survival Analysis of Adeno-Associated Virus Vector Serotype 2-Mediated Gene Therapy to the Central Nervous System for CLN2 Disease. [PDF]

Hum Gene Ther
Sondhi D, Kaminsky SM, Rosenberg JB, Rostami MR, Hackett NR, Crystal RG.   +5 more
europepmc   +2 more sources

Mutation update: Review of TPP1 gene variants associated with neuronal ceroid lipofuscinosis CLN2 disease. [PDF]

Hum Mutat, 2019
Neuronal ceroid lipofuscinosis type 2 (CLN2 disease) is an autosomal recessive condition caused by variants in the TPP1 gene, leading to deficient activity of the lysosomal enzyme tripeptidyl peptidase I (TPP1). We update on the spectrum of TPP1 variants
Gardner E, Bailey M, Schulz A, Aristorena M, Miller N, Mole SE.   +5 more
europepmc   +3 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

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

Generation of pathogenic TPP1 mutations in human stem cells as a model for neuronal ceroid lipofuscinosis type 2 disease

Stem Cell Research, 2021
Neuronal ceroid lipofuscinosis type 2 (CLN2 disease) is an autosomal recessive neurodegenerative disorder generally with onset at 2 to 4 years of age and characterized by seizures, loss of vision, progressive motor and mental decline, and premature death.
Li Ma, Adriana M. Prada, Michael Schmidt, Eric M. Morrow   +3 more
doaj   +1 more source

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

Buffy Coat Score as a Biomarker of Treatment Response in Neuronal Ceroid Lipofuscinosis Type 2

Brain Sciences, 2023
The introduction of intracerebroventricular (ICV) enzyme replacement therapy (ERT) for treatment of neuronal ceroid lipofuscinosis type 2 (CLN2) disease has produced dramatic improvements in disease management.
Siyamini Sivananthan, Laura Lee, Glenn Anderson, Barbara Csanyi, Ruth Williams, Paul Gissen   +5 more
doaj   +1 more source

Disease characteristics and progression in patients with late-infantile neuronal ceroid lipofuscinosis type 2 (CLN2) disease: an observational cohort study. [PDF]

Lancet Child Adolesc Health, 2018
BACKGROUND: Late-infantile neuronal ceroid lipofuscinosis type 2 (CLN2) disease, characterised by rapid psychomotor decline and epilepsy, is caused by deficiency of the lysosomal enzyme tripeptidyl peptidase 1.
Nickel M, Simonati A, Jacoby D, Lezius S, Kilian D, Van de Graaf B, Pagovich OE, Kosofsky B, Yohay K, Downs M, Slasor P, Ajayi T, Crystal RG, Kohlschütter A, Sondhi D, Schulz A.   +15 more
europepmc   +2 more sources