Results 11 to 20 of about 9,571 (221)

CLN6 Variant of Late Infantile Neuronal Ceroid Lipofuscinosis Caused by a Homozygous Mutation: Case Report in Colombia [PDF]

Journal of Inborn Errors of Metabolism and Screening, 2023
Introduction: Neuronal ceroid lipofuscinosis (NCLs) is an autosomal recessive neurodegenerative disorders group. We report the first case in Colombia involving a new genetically confirmed variant of a homozygous CLN6 mutation.
Daniel Eduardo Manrique Hernandez, Diana Sanchez-Peñarete, Sandra Milena Castellar-Leones, Lisseth Cabarcas-Castro   +3 more
doaj   +1 more source

Exploring dementia and neuronal ceroid lipofuscinosis genes in 100 FTD-like patients from 6 towns and rural villages on the Adriatic Sea cost of Apulia

Scientific Reports, 2021
Frontotemporal dementia (FTD) refers to a complex spectrum of clinically and genetically heterogeneous disorders. Although fully penetrant mutations in several genes have been identified and can explain the pathogenic mechanisms underlying a great ...
Celeste Sassi, Rosa Capozzo, Monia Hammer, Chiara Zecca, Monica Federoff, Cornelis Blauwendraat, Nick Bernstein, Jinhui Ding, J. Raphael Gibbs, Timothy Price, Andrew Singleton, Giancarlo Logroscino   +11 more
doaj   +1 more source

Aberrant upregulation of the glycolytic enzyme PFKFB3 in CLN7 neuronal ceroid lipofuscinosis

Nature Communications, 2022
CLN7 neuronal ceroid lipofuscinosis is an inherited lysosomal storage disease typically with childhood onset of neurodegenerative symptoms. Here the authors report that in a mouse model of CLN7 disease neuronal reactive oxygen species and the activity of
Irene Lopez-Fabuel, Marina Garcia-Macia, Costantina Buondelmonte, Olga Burmistrova, Nicolo Bonora, Paula Alonso-Batan, Brenda Morant-Ferrando, Carlos Vicente-Gutierrez, Daniel Jimenez-Blasco, Ruben Quintana-Cabrera, Emilio Fernandez, Jordi Llop, Pedro Ramos-Cabrer, Aseel Sharaireh, Marta Guevara-Ferrer, Lorna Fitzpatrick, Christopher D. Thompton, Tristan R. McKay, Stephan Storch, Diego L. Medina, Sara E. Mole, Peter O. Fedichev, Angeles Almeida, Juan P. Bolaños   +23 more
doaj   +1 more source

“Real world effectiveness of cerliponase alfa in classical and atypical patients. A case series”

Molecular Genetics and Metabolism Reports, 2021
Introduction: Late infantile neuronal ceroid lipofuscinosis is an autosomal recessive disease caused by mutations in the CLN2/TPP1 gene, with secondary enzyme deficiency.
O.M. Espitia Segura, Z. Hernández, N.I. Mancilla, R.A. Naranjo, L. Tavera   +4 more
doaj   +1 more source

Novel in-frame deletion in MFSD8 gene revealed by trio whole exome sequencing in an Iranian affected with neuronal ceroid lipofuscinosis type 7: a case report

Journal of Medical Case Reports, 2018
Background The neuronal ceroid lipofuscinoses are a group of neurodegenerative, lysosomal storage disorders. They are inherited as an autosomal recessive pattern with the exception of adult neuronal ceroid lipofuscinosis, which can be inherited in either
Ali Hosseini Bereshneh, Masoud Garshasbi
doaj   +1 more source

The Chihuahua dog: A new animal model for neuronal ceroid lipofuscinosis CLN7 disease? [PDF]

, 2016
Neuronal ceroid lipofuscinoses (NCLs) are a group of incurable lysosomal storage disorders characterized by neurodegeneration and accumulation of lipopigments mainly within the neurons. We studied two littermate Chihuahua dogs presenting with progressive
Alroy, Joseph, Anderson, Glenn W., Bras, Jose, Darwent, Lee, Faller, Kiterie M.E., Guerreiro, Rita J., Gutierrez Quintana, Rodrigo, Kun-Rodrigues, Celia, Mole, Sara E., Penderis, Jacques, Sharpe, Samuel J.   +10 more
core   +2 more sources

Atypical presentation of neuronal ceroid lipofuscinosis type 8 in a sibling pair and review of the eye findings and neurological features. [PDF]

, 2016
Purpose:To report atypical presentation of neuronal ceroid lipofuscinoses type 8 (CLN8) to the eye clinic and review clinical features of CLN8. Observations:Detailed eye exam by slit lamp exam, indirect ophthalmoscopy, fundus photography, optical ...
Collins, Christin D, Mierau, Gary, Richards, Sarah, Sanchez, Rossana L, Shankar, Suma P, Wartchow, Eric P, Yan, Jiong   +6 more
core   +2 more sources

Imaging data on characterization of retinal autofluorescent lesions in a mouse model of juvenile neuronal ceroid lipofuscinosis (CLN3 disease)

Data in Brief, 2020
Juvenile neuronal ceroid lipofuscinosis (JNCL, aka. juvenile Batten disease or CLN3 disease), a lethal pediatric neurodegenerative disease without cure, often presents with vision impairment and characteristic ophthalmoscopic features including focal ...
Qing Jun Wang, Kyung Sik Jung, Kabhilan Mohan, Mark E. Kleinman   +3 more
doaj   +1 more source

The paediatric rheumatologist and orphan disease – a story without happy ending

Rheumatology, 2016
Orphan diseases are not a common challenge in the everyday practice of the rheumatologist. Despite their extremely rare occurrence one of the patients under our care developed one of them – neuronal ceroid lipofuscinosis, the most frequent ...
Justyna Roszkiewicz, Małgorzata Biernacka-Zielińska, Elżbieta Smolewska   +2 more
doaj   +1 more source

Neuronal ceroid lipofuscinosis: A case report

Bangabandhu Sheikh Mujib Medical University Journal, 2023
Neuronal ceroid lipofuscinoses (NCL) represent severe neurodegenerative conditions which is one of the lysosomal storage disorders. There are four main clinical forms of NCL among which late infantile variety is the second most common condition.
Gopen Kumar Kundu, Masuma Akhter, Sanjida Ahmed, Bishnu Pada Dey, Shah Noor Hassan   +4 more
doaj   +1 more source