Results 11 to 20 of about 4,597 (153)

Modelling of Neuronal Ceroid Lipofuscinosis Type 2 in Dictyostelium discoideum Suggests That Cytopathological Outcomes Result from Altered TOR Signalling [PDF]

Cells, 2019
The neuronal ceroid lipofuscinoses comprise a group of neurodegenerative disorders with similar clinical manifestations whose precise mechanisms of disease are presently unknown.
Paige K. Smith, Melodi G. Sen, Paul R. Fisher, Sarah J. Annesley   +3 more
doaj   +2 more sources

Early Symptoms and Treatment Outcomes in Neuronal Ceroid Lipofuscinosis Type 2: Croatian Experience. [PDF]

J Pers Med
Background: Late infantile neuronal ceroid lipofuscinosis type 2 (CLN2) is a rare neurodegenerative disease that generally appears in children between 2 and 4 years old, leading to seizures and a progressive loss of language and motor functions. As the disease progresses, affected individuals typically experience blindness and ultimately pass away in ...
Radić Nišević J, Kolić I, Kostanjski M, Kovačević F, Prpić I.   +4 more
europepmc   +5 more sources

Intraventricular Cerliponase Alfa Treatment in a Patient with Advanced Neuronal Ceroid Lipofuscinosis Type 2. [PDF]

Intern Med
Neuronal ceroid lipofuscinosis type 2 (CLN2) is an autosomal recessive lysosomal disease caused by decreased activity of the enzyme tripeptidyl peptidase 1 (TPP1) due to pathogenic variants in the TPP1 gene. Cerliponase alfa, a recombinant proenzyme form of TPP1, has shown efficacy in preventing motor and language function decline in early-stage CLN2 ...
Nakashima S, Hamada M, Kimura T, Tanifuji S, Takahashi A, Yashita D, Kakimoto Y, Matsukawa T, Ishiura H, Toda T.   +9 more
europepmc   +3 more sources

Revealing the clinical phenotype of atypical neuronal ceroid lipofuscinosis type 2 disease: Insights from the largest cohort in the world. [PDF]

J Paediatr Child Health, 2021
AimNeuronal ceroid lipofuscinosis type 2 (CLN2) disease is an autosomal recessive inherited neurodegenerative lysosomal storage disorder caused by deficient tripeptidyl peptidase 1 (TPP1) enzyme, leading to progressive deterioration of neurological functions commonly occurring in children aged 2–4 years and culminating in early death.
Lourenço CM, Pessoa A, Mendes CC, Rivera-Nieto C, Vergara D, Troncoso M, Gardner E, Mallorens F, Tavera L, Lizcano LA, Atanacio N, Guelbert N, Specola N, Mancilla N, de Souza CFM, Mole SE.   +15 more
europepmc   +6 more sources

Rare Genetic Diseases with Founder Effect in Roma Children [PDF]

Life
(1) Background: The characteristics of rare diseases (RDs) vary considerably—not only between different disease types but also between individual patients with the same condition.
Simona Drobňaková, Mária Andrejková, Jana Šaligová, Ľudmila Potočňáková, Veronika Vargová, Milan Kuchta, Roman Beňačka, László Barkai   +7 more
doaj   +2 more sources

Intracerebroventricular Cerliponase Alfa for Neuronal Ceroid Lipofuscinosis Type 2 Disease: Clinical Practice Considerations From US Clinics [PDF]

Pediatric Neurology, 2020
Neuronal ceroid lipofuscinosis type 2 or CLN2 disease is a rare, autosomal recessive, neurodegenerative lysosomal storage disorder caused by tripeptidyl peptidase 1 deficiency. Cerliponase alfa, a recombinant human tripeptidyl peptidase 1 enzyme, is the first and only approved treatment for CLN2 disease and the first approved enzyme replacement therapy
Raymond Yu-Jeang Wang, Elizabeth Berry-Kravis, Erika F Augustine   +2 more
exaly   +3 more sources

Patient and Family Perspective on Transition from Ventricular Access Device to Chest-Sited Port for Intracerebroventricular Infusion in CLN2 Disease [PDF]

Children
Background: Cerliponase alfa is currently the only approved disease-modifying therapy for neuronal ceroid lipofuscinosis type 2 (CLN2) disease and requires lifelong intracerebroventricular (ICV) infusion, traditionally via a scalp-sited ventricular ...
Mahie Gopalka, Jina Patel, Megan Votoupal, Sandi Lam   +3 more
doaj   +2 more sources

Teaching NeuroImage: Low-Frequency Photoparoxysmal Response in a Patient With Neuronal Ceroid Lipofuscinosis Type 2. [PDF]

Neurology, 2023
Mirchi A, Myers KA.
europepmc   +3 more sources

Cerliponase alfa for neuronal ceroid lipofuscinosis type 2 disease. [PDF]

Aust Prescr, 2019
europepmc   +5 more sources

A novel myopathy with autophagic vacuoles associated with biallelic variants in CLN8. [PDF]

Brain Pathol
We describe a novel adult‐onset myopathy with autophagic vacuoles and characteristic features of ceroid lipofuscinosis associated with biallelic CLN8 variants, seizures, and muscle weakness. Autophagosomal/lysosomal deposition of curvilinear, autofluorescent material containing the mitochondrial adenosine triphosphate (ATP) synthase membrane subunit c ...
Lindgren U, Hedberg-Oldfors C, Visuttijai K, Nordström S, Goebel H, Oldfors A.   +5 more
europepmc   +2 more sources