Results 21 to 30 of about 1,776 (152)

Global Brain Transcriptome Analysis of a Neuronal Ceroid Lipofuscinoses Mouse Model [PDF]

ASN Neuro, 2019
In humans, homozygous mutations in the TPP1 gene results in loss of tripeptidyl peptidase 1 (TPP1) enzymatic activity, leading to late infantile neuronal ceroid lipofuscinoses disease.
Miriam S. Domowicz, Wen-Ching Chan, Patricia Claudio-Vázquez, Judith G. Henry, Christopher B. Ware, Jorge Andrade, Glyn Dawson, Nancy B. Schwartz   +7 more
doaj   +2 more sources

First Reported Case of CLN5 Disease in Japan: Identification of a Novel Homozygous Pathogenic Variant Through Whole Genome Sequencing. [PDF]

Clin Case Rep
ABSTRACT Neuronal ceroid lipofuscinoses (NCL) belong to a group of inherited neurodegenerative diseases characterized by psychomotor regression, seizures, and visual impairment, resulting from intracellular accumulation of lipofuscin. CLN5, a subtype typically manifesting between ages 4 to 17, is particularly rare in non‐Finnish populations.
Nishi E, Yanagi K, Shima M, Yamazaki N, Kawato K, Narita A, Sakai N, Okamoto N, Yanagihara K, Kaname T.   +9 more
europepmc   +2 more sources

Perioperative care of a patient with neuronal ceroid lipofuscinoses

Saudi Journal of Anaesthesia, 2013
The neuronal ceroid lipofuscinoses (NCL) are a group of inherited, autosomal recessive, and progressive neurodegenerative diseases, which result from an enzymatic defect or the deficiency of a transmembrane protein, leading to the accumulation of ...
Hiromi Kako, David P Martin, Joseph D Tobias   +2 more
doaj   +2 more sources

Ocular therapies for neuronal ceroid lipofuscinoses: more than meets the eye [PDF]

Neural Regeneration Research, 2022
Samantha J Murray, Nadia L Mitchell
doaj   +2 more sources

Palmitoyl-Protein Thioesterase 1 (PPT1) Protein, Linked to Neuronal Ceroid Lipofuscinosis 1, Is a Major Constituent of Ageing-Related Human Neuronal Lipofuscin. [PDF]

Neuropathol Appl Neurobiol
ABSTRACT Proteomics of laser‐dissected lipofuscin from aged, healthy brains reveals Palmitoyl‐Protein Thioesterase 1 (PPT1) and other CLN proteins as constituents. PPT1 is increasingly sequestered to lipofuscin during ageing. Protein sequestering into lipofuscin may contribute to physiological neuronal ageing.
Anstötz M, Tschirner S, May C, Kösters S, Martin C, Caspers S, Aronica E, Bidmon HJ, Marcus K, Korth C.   +9 more
europepmc   +2 more sources

Sunken eyes as a peculiar finding in neuronal ceroid lipofuscinoses [PDF]

Arquivos de Neuro-Psiquiatria
Raphael Pinheiro Camurugy da Hora, Victor Rebelo Procaci, João Victor Cabral Correia Férrer, Thiago Yoshinaga Tonholo Silva, Flávio Moura de Rezende Filho, José Luiz Pedroso, Orlando Graziani Povoas Barsottini   +6 more
doaj   +2 more sources

The Neuronal Ceroid Lipofuscinoses

Abstract The neuronal ceroid lipofuscinoses (NCL), also known as Batten disease, are a group of inherited lysosomal storage disorders that share similar pathological and clinical features. They are characterized by accumulation of autofluorescent storage material within the lysosome and the death of neurons.
Mole SE.
europepmc   +2 more sources

Converging links between adult-onset neurodegenerative Alzheimer’s disease and early life neurodegenerative neuronal ceroid lipofuscinosis?

Neural Regeneration Research, 2023
Evidence from genetics and from analyzing cellular and animal models have converged to suggest links between neurodegenerative disorders of early and late life. Here, we summarize emerging links between the most common late life neurodegenerative disease,
Marcel Klein, Guido Hermey
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

Moyamoya and progressive myoclonic epilepsy secondary to CLN6 bi-allelic mutations – A previously unreported association

Epilepsy & Behavior Reports, 2020
The neuronal ceroid lipofuscinoses (NCL) are a collection of lysosomal storage diseases characterised by the accumulation of characteristic inclusions containing lipofuscin in various tissues of the body and are one of the causes of progressive myoclonic
Jamie Talbot, Priyanka Singh, Clinda Puvirajasinghe, Sanjay M. Sisodiya, Fergus Rugg-Gunn   +4 more
doaj   +1 more source