Results 1 to 10 of about 425 (135)

MRI findings in neuronal ceroid lipofuscinosis

Radiology Case Reports, 2020
Neuronal ceroid lipofuscinosis is a rare cause for developmental delay and seizures that results in neurodegeneration. Presented here is a case of a 5-year-old male who presented for MRI following a delay in achieving developmental milestones and ...
Anna M. Crain, Deanna L. Kitchen, MD, MPH, Nikhil Godiyal, Cory M. Pfeifer, MD, MPH   +3 more
doaj   +3 more sources

A clinical case of type 2 neuronal ceroid lipofuus cynosis caused by a homozygous mutation in the TPP1 gene

Лечащий Врач, 2022
Neuronal ceroid lipofuscinosis is a group of diseases caused by the accumulation of autofluorescent lipid-containing pigments: ceroid and lipofuscin. Pigments form intracellular inclusions that look like curvilinear layered bodies (sometimes resembling ...
A. V. Serezhkina, A. A. Bulkа, I. G. Khmelevskaya, N. S. Razinkova, T. A. Minenkova, M. O. Babkin   +5 more
doaj   +1 more source

Paroxysmal sympathetic hyperactivity following status epilepticus in a 22-year-old with Juvenile Neuronal Ceroid Lipofuscinosis: A case report

Epilepsy & Behavior Reports, 2021
The Neuronal Ceroid Lipofuscinosis (NCL) refers to a group of rare neurolipidosis disorders characterized by progressive blindness, deterioration of speech and motor function, cognitive decline, behavior problems, seizures, and premature death. We report
Molly D. Himmelrich, Jennifer M. Pritchard, Camilo Gutierrez, Tara L.M. Dutta   +3 more
doaj   +1 more source

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

Neuronal Ceroid-lipofuscinosis in a Cat [PDF]

Veterinary Pathology, 1995
Neuronal ceroid-lipofuscinosis was diagnosed in a young adult domestic short-haired cat euthanatized because of severe progressive neurologic disease. Clinical signs included blindness, seizures, and decreased mentation. An autofluorescent pigment, identified as ceroid-lipofuscin by electron microscopy and staining properties, was found within neurons ...
R, Bildfell, C, Matwichuk, S, Mitchell, P, Ward   +3 more
openaire   +2 more sources

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

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