Neuronal ceroid lipofuscinosis
View article: TMEM59 deficiency ameliorates disease-like pathologies in tauopathy model mice via activating chaperone-mediated autophagy
TMEM59 deficiency ameliorates disease-like pathologies in tauopathy model mice via activating chaperone-mediated autophagy Open
In the present study, we found that TMEM59 levels were increased in the brains of AD patients and the PS19 tauopathy mouse model at pathological stages. TMEM59 haploinsufficiency attenuated cognitive deficits, neurodegeneration, synapse dy…
View article: Progressive rod bipolar cell loss, ubiquitin accumulation, and subretinal drusenoid deposits in Cln3Δex7/8 mice: New insights into juvenile neuronal ceroid lipofuscinosis pathogenesis
Progressive rod bipolar cell loss, ubiquitin accumulation, and subretinal drusenoid deposits in Cln3Δex7/8 mice: New insights into juvenile neuronal ceroid lipofuscinosis pathogenesis Open
Juvenile neuronal ceroid lipofuscinosis (JNCL) is a rare neurodegenerative disorder caused by mutations in the CLN3 gene and characterized by early vision loss and a progressive neurological decline. To characterize the progression of reti…
View article: Longitudinal Exploration of Auditory Sensory-Perceptual Processing in CLN3 Disease (Juvenile Neuronal Ceroid Lipofuscinosis (Batten disease)): A High-Density Auditory Evoked Potential (AEP) Study
Longitudinal Exploration of Auditory Sensory-Perceptual Processing in CLN3 Disease (Juvenile Neuronal Ceroid Lipofuscinosis (Batten disease)): A High-Density Auditory Evoked Potential (AEP) Study Open
Background There is currently limited information about sensory and perceptual abilities across the progression of CLN3 disease (Juvenile Neuronal Ceroid Lipofuscinosis; Batten disease), a recessively inherited lysosomal storage disorder a…
View article: Phenotypic characterization of an Atp13a2 knockout rat model of Parkinson’s disease
Phenotypic characterization of an Atp13a2 knockout rat model of Parkinson’s disease Open
Mutations in the ATP13A2 gene were identified as the cause of Kufor-Rakeb syndrome (KRS), a juvenile-onset form of Parkinson’s disease (PD). Developing relevant and predictive models for the rare PD forms is necessary to understand the pat…
View article: Reversible synaptic deficits in early-stage Batten disease
Reversible synaptic deficits in early-stage Batten disease Open
Juvenile neuronal ceroid lipofuscinosis (JNCL, Batten Disease) is a childhood-onset, neurodegenerative, lysosomal storage disorder caused by mutations in the lysosomal gene CLN3 . Progressive cognitive decline is a key clinical manifestati…
View article: Evaluation of the toxicity and efficacy of a multi-target polymer-drug nano-polyplex in SH-SY5Y cells and Drosophila model of tauopathy
Evaluation of the toxicity and efficacy of a multi-target polymer-drug nano-polyplex in SH-SY5Y cells and Drosophila model of tauopathy Open
Hyperphosphorylated tau contributes to synaptic damage and neuronal dysfunction in neurodegenerative diseases such as Alzheimer’s disease (AD), making it a key therapeutic target. This study evaluated the toxicity and therapeutic potential…
View article: Canine Neuronal Ceroid Lipofuscinosis-like Disorder Associated with Sequence Variants in AP3B1 and TRAPPC9
Canine Neuronal Ceroid Lipofuscinosis-like Disorder Associated with Sequence Variants in AP3B1 and TRAPPC9 Open
Background/Objectives: A Petit Bleu de Gascogne (PBDG) dog presented with a progressive neurological disorder characterized by hind-limb weakness, anxiety and hallucinatory episodes, lip smacking, progressive vision loss, muscle atrophy, a…
View article: The impact of genetic variation and phenotype on lysosomal diseases, and the identification of biomarkers for disease progression and response to treatment
The impact of genetic variation and phenotype on lysosomal diseases, and the identification of biomarkers for disease progression and response to treatment Open
Lysosomal storage diseases (LSD) are a group of over 70 rare inherited metabolic disorders that result from defects in lysosomal function (lysosomes are found in the body’s cells and they help break down, or digest, certain materials insid…
View article: 510 Ultrastructural and Molecular Correlation in a Pediatric Case of CLN6-Associated Neuronal Ceroid Lipofuscinoses (NCLs)
510 Ultrastructural and Molecular Correlation in a Pediatric Case of CLN6-Associated Neuronal Ceroid Lipofuscinoses (NCLs) Open
Introduction/Objective Neuronal ceroid lipofuscinoses (NCLs), also known as Batten disease, represents a spectrum of inherited neurodegenerative disorders characterized by lysosomal accumulation of cellular ceroid lipofuscin, a waste produ…
View article: CEP290-deficiency disrupts ciliary axonemal architecture in human iPSC-derived brain organoids
CEP290-deficiency disrupts ciliary axonemal architecture in human iPSC-derived brain organoids Open
Primary cilia are ubiquitous sensory organelles mediating various signaling modalities essential for development and cell homeostasis. Their dysfunction leads to ciliopathies, human disorders often affecting the central nervous system. CEP…
View article: CLN5 deficiency impairs glucose uptake and uncovers PHGDH as a potential biomarker in Batten disease
CLN5 deficiency impairs glucose uptake and uncovers PHGDH as a potential biomarker in Batten disease Open
CLN5 disease, a form of juvenile dementia within the neuronal ceroid lipofuscinosis (NCL), is associated with mutations in the CLN5 gene encoding the lysosomal bis(monoacylglycero)phosphate (BMP) synthase, essential for BMP production and …
View article: Elevated tripeptidyl-peptidase 1 corrects multiple disease phenotypes in a mouse model of juvenile neuronal ceroid lipofuscinosis
Elevated tripeptidyl-peptidase 1 corrects multiple disease phenotypes in a mouse model of juvenile neuronal ceroid lipofuscinosis Open
Juvenile neuronal ceroid lipofuscinosis (JNCL) is a neurodegenerative lysosomal storage disease caused by the loss of the endolysosomal transmembrane protein, CLN3. The main protein component of lysosomal storage material in JNCL is subuni…
View article: Cerliponase alfa therapy leads to long-term seizure freedom in a patient with late infantile neuronal ceroid lipofuscinosis
Cerliponase alfa therapy leads to long-term seizure freedom in a patient with late infantile neuronal ceroid lipofuscinosis Open
View article: Neuronal ceroid lipofuscinosis type 5 in Russia: first case report and literature review
Neuronal ceroid lipofuscinosis type 5 in Russia: first case report and literature review Open
Neuronal ceroid lipofuscinosis (NCL) is one of the most common causes of childhood dementia. NCL type 5 is characterized by epileptic seizures, cognitive decline, and progressive vision loss. Whole exome sequencing was performed, and the i…
View article: Age at onset and gene variants predict lifespan and disease duration in childhood neuronal ceroid lipofuscinoses
Age at onset and gene variants predict lifespan and disease duration in childhood neuronal ceroid lipofuscinoses Open
Full Paper: https://onlinelibrary.wiley.com/doi/10.1111/dmcn.16416
View article: Gut–Brain Interactions in Neuronal Ceroid Lipofuscinoses: A Systematic Review Beyond the Brain in Paediatric Dementias
Gut–Brain Interactions in Neuronal Ceroid Lipofuscinoses: A Systematic Review Beyond the Brain in Paediatric Dementias Open
Neuronal ceroid lipofuscinoses (NCLs) are paediatric neurodegenerative disorders that primarily affect the central nervous system (CNS). The high prevalence of gastrointestinal (GI) symptoms has prompted researchers and clinicians to move …
View article: Age at onset and gene variants predict lifespan and disease duration in childhood neuronal ceroid lipofuscinoses
Age at onset and gene variants predict lifespan and disease duration in childhood neuronal ceroid lipofuscinoses Open
Aim To address disease progression in a cohort of patients with childhood‐onset neuronal ceroid lipofuscinosis (NCL), a group of genetic disorders leading to progressive dementia. Method In this retrospective study, selected clinical featu…
View article: Cerliponase Alfa for Pediatric Patients With Neuronal Ceroid Lipofuscinosis Type 2 Disease
Cerliponase Alfa for Pediatric Patients With Neuronal Ceroid Lipofuscinosis Type 2 Disease Open
What Is the Issue? Neuronal ceroid lipofuscinosis type 2 (CLN2) disease is an ultrarare, severe, and rapidly progressing lysosomal storage disorder, with a global incidence of approximately 0.15 to 9.0 per 100,000 live births. It has a dev…
View article: Same-Day Approach for Combined Intravitreal and Intracerebroventricular Enzyme Replacement Therapy to Prevent Retinal Disease Progression in Children With Neuronal Ceroid Lipofuscinosis Type 2
Same-Day Approach for Combined Intravitreal and Intracerebroventricular Enzyme Replacement Therapy to Prevent Retinal Disease Progression in Children With Neuronal Ceroid Lipofuscinosis Type 2 Open
We believe our pathway can be applied at all centers that are currently administering intracerebroventricular cerliponase alfa and that have the ophthalmologic expertise available to administer intravitreal injections.
View article: Neuronal lipofuscinosis caused by Kufs disease/CLN4 DNAJC5 mutations but not by a CSPα/DNAJC5 deficiency
Neuronal lipofuscinosis caused by Kufs disease/CLN4 DNAJC5 mutations but not by a CSPα/DNAJC5 deficiency Open
Kufs disease/CLN4 is an autosomal dominant neurodegenerative disorder caused by unknown mechanisms through Leu 115 Arg and Leu 116 Δ mutations in the DNAJC5 gene that encodes the synaptic vesicle co-chaperone cysteine string protein α (CSP…
View article: Novel surgical approach for intraventricular cerliponase alfa enzyme replacement therapy via central venous access device (CVAD) port in neuronal ceroid lipofuscinosis type 2 (CLN2) disease
Novel surgical approach for intraventricular cerliponase alfa enzyme replacement therapy via central venous access device (CVAD) port in neuronal ceroid lipofuscinosis type 2 (CLN2) disease Open
View article: Progranulin deficiency in the brain: the interplay between neuronal and non-neuronal cells
Progranulin deficiency in the brain: the interplay between neuronal and non-neuronal cells Open
Heterozygous mutations in GRN gene lead to insufficient levels of the progranulin (PGRN) protein, resulting in frontotemporal dementia (FTD) with TAR DNA-binding protein 43 (TDP-43) inclusions, classified pathologically as frontotemporal l…
View article: Magnetic Resonance Imaging as a Readout of CLN5 Gene Therapy Efficacy in Sheep
Magnetic Resonance Imaging as a Readout of CLN5 Gene Therapy Efficacy in Sheep Open
Purpose Neuronal ceroid lipofuscinoses (NCL; Batten disease) are a group of rare inherited neurodegenerative disorders caused by mutations in one of 13 ceroid lipofuscinosis neuronal ( CLN ) genes. The diseases share a common set of sympto…
View article: The effect of arimoclomol treatment of fibroblasts on the activity of causal enzymes of Fabry disease and neuronal ceroid lipofuscinosis
The effect of arimoclomol treatment of fibroblasts on the activity of causal enzymes of Fabry disease and neuronal ceroid lipofuscinosis Open
We investigated the effect of treatment of fibroblasts with arimoclomol, a heat shock protein co-inducer, on the causal enzymes of Fabry disease and neuronal ceroid lipofuscinosis (NCL). The results revealed that the treatment of female fi…
View article: Molecular elucidation of brain lipofuscin in aging and Neuronal Ceroid Lipofuscinosis
Molecular elucidation of brain lipofuscin in aging and Neuronal Ceroid Lipofuscinosis Open
Lipofuscin is an autofluorescent material that accrues in brain tissues with age and in Neuronal Ceroid Lipofuscinosis (NCL), a neurodegenerative disease with pediatric onset. The distribution, composition, and organellar origin of lipofus…
View article: A Rare Case of Neuronal Ceroid Lipofuscinosis 5 in A Child: From Initial Attention Deficit Hyperactivity Disorder Symptoms to Severe Neurodegeneration
A Rare Case of Neuronal Ceroid Lipofuscinosis 5 in A Child: From Initial Attention Deficit Hyperactivity Disorder Symptoms to Severe Neurodegeneration Open
Neuronal ceroid lipofuscinosis (NCL) is a group of rare, inherited neurodegenerative disorders characterized by the accumulation of lipopigments in neuronal cells. Among these, CLN5 lipofuscinosis is generally considered a juvenile-onset v…
View article: TRAM-LAG1-CLN8 family proteins are acyltransferases regulating phospholipid composition
TRAM-LAG1-CLN8 family proteins are acyltransferases regulating phospholipid composition Open
The diversity of cellular phospholipids, crucial for membrane homeostasis and function, arises from enzymatic remodeling of their fatty acyl chains. In this work, we reveal that poorly understood TRAM-LAG1-CLN8 domain (TLCD)–containing pro…
View article: Unravelling a mechanistic link between mitophagy defect, mitochondrial malfunction, and apoptotic neurodegeneration in Mucopolysaccharidosis VII
Unravelling a mechanistic link between mitophagy defect, mitochondrial malfunction, and apoptotic neurodegeneration in Mucopolysaccharidosis VII Open
Cognitive disability and neurodegeneration are prominent symptoms of Mucopolysaccharidosis VII (MPS VII), a lysosomal storage disorder caused by β-glucuronidase enzyme deficiency. Yet, the mechanism of neurodegeneration in MPS VII remains …
View article: Neuronal Ceroid Lipofuscinosis—Concepts, Classification, and Avenues for Therapy
Neuronal Ceroid Lipofuscinosis—Concepts, Classification, and Avenues for Therapy Open
Neuronal ceroid lipofuscinosis (NCL) is a group of neurodegenerative lysosomal storage disorders characterized by excessive accumulation of lysosomal lipofuscin. Thirteen subtypes of NCL have been identified, each associated with distinct …
View article: The Batten disease gene Cln3 is required for the activation of intestinal stem cell during regeneration via JAK/STAT signaling in Drosophila
The Batten disease gene Cln3 is required for the activation of intestinal stem cell during regeneration via JAK/STAT signaling in Drosophila Open
CLN3 mutation causes Juvenile neuronal ceroid lipofuscinosis (JNCL, also known as Batten disease), an early onset neurodegenerative disorder. Patients who suffer from Batten disease often die at an early age. However, the mechanisms underl…