The neuronal ceroid lipofuscinoses

  title={The neuronal ceroid lipofuscinoses},
  author={Jill M. Weimer and Elizabeth Kriscenski-Perry and Yasser M Elshatory and David A. Pearce},
  journal={NeuroMolecular Medicine},
The neuronal ceroid-lipofuscinoses (NCL) are the most common group of progressive neurodegenerative diseases in children, with an incidence as high as one in 12,500 live births. The main features of this disease are failure of psychomotor development, impaired vision, seizures, and premature death. Many biochemical and physiological studies have been initiated to determine the cellular defect underlying the disease, although only a few traits have been truly associated with the disorders. One… 

Neuronal ceroid lipofuscinoses: many players, and more to come

The expanding array of genetic etiologies and disease-associated mutations in NCL provide the basis for the heterogeneity of these clinical conditions and are the focus of this review.

Animal model and molecular interactions of Cln5

This study is the first to describe the brain pathology and gene expression changes in the Cln5-/mouse and highlight that the relatively rare Finnish CLN5/vLINCLFin forms a very important model to analyze the pathophysiology of NCL diseases, protein interactome and effects between genes and proteins leading to neurodegeneration in general.

Molecular networking in the neuronal ceroid lipofuscinoses: insights from mammalian models and the social amoeba Dictyostelium discoideum

  • R. Huber
  • Biology
    Journal of Biomedical Science
  • 2020
Understanding of the molecular networking of NCL proteins is highlighted to help set the stage for future work to reveal the cellular mechanisms underlying the NCLs.

Neuronal Ceroid Lipofuscinosis: A Common Pathway?

The work presented supports interactions between NCL proteins occurring at multiple points along one pathway, suggesting the proteins defective in these disorders may interactAlong one pathway.

Spectral properties and mechanisms that underlie autofluorescent accumulations in Batten disease.

Compromised astrocyte function and survival negatively impact neurons in infantile neuronal ceroid lipofuscinosis

It is suggested that both Ppt1−/− microglia and astrocytes are dysfunctional and may contribute to the neurodegeneration observed in CLN1 disease, suggesting that the pathogenic role of glia may differ between NCLs.

Human and rat brain lipofuscin proteome

This study is the first to characterize human and rat brain lipofuscin and identifies high homology, pointing to common cellular pathomechanisms of age‐associated lip ofuscin accumulation despite the huge (40‐fold) difference in the lifespan of these species.

Neuronal pigmented autophagic vacuoles: lipofuscin, neuromelanin, and ceroid as macroautophagic responses during aging and disease

The most striking morphologic change in neurons during normal aging is the accumulation of autophagic vacuoles filled with lipofuscin or neuromelanin pigments, which may eventually interfere with normal degradative pathways and endocytic/secretory tasks such as appropriate response to growth factors.



The Neuronal Ceroid Lipofuscinoses (Batten Disease)

The neuronal ceroid lipofuscinoses (NCL), also called Batten disease, are a group of neurodegenerative lysosomal storage diseases affecting humans and other animals. They are inherited as autosomal

Batten Disease: Four Genes and Still Counting

  • S. Mole
  • Biology
    Neurobiology of Disease
  • 1998
Light is shed on the molecular basis of the neuronal ceroid lipofuscinoses and suggests that the primary defect in the NCLs lies in lysosomal proteolysis, the first example of this type of disease.

The neuronal ceroid-lipofuscinoses.

  • H. Goebel
  • Medicine, Biology
    Seminars in pediatric neurology
  • 1996

Neuronal ceroid lipofuscinosis (nclf), a new disorder of the mouse linked to chromosome 9.

A second genetic variant of NCL is described in the mouse, neuronal ceroid lipofuscinosis, nclf, which exhibited a phenotype that was almost exactly the same as that observed in mnd/mnd mice.

Molecular basis of the neuronal ceroid lipofuscinoses: Mutations in CLN1, CLN2, CLN3, and CLN5

The neuronal ceroid lipofuscinoses are a group of neurodegenerative disorders characterised by the accumulation of an autofluorescent lipopigment in many cell types and the basic defect in the NCLs appears to be associated with lysosomal function.

Batten's disease: Clues to neuronal protein catabolism in lysosomes

It is concluded that the 8 genes probably code for proteins which facilitate the degradation of post‐translationally modified proteins in lysosomes, suggesting that the turnover of these proteins is highest in cortical neurons.

Action of BTN1, the yeast orthologue of the gene mutated in Batten disease

It is suggested that btn1-Δ yeast strains have an abnormally acidic vacuolar pH in the early phases of growth, and parallels between fundamental biological processes in yeast and previously observed characteristics of neurodegeneration in humans are drawn.

Reevaluation of neuronal ceroid lipofuscinoses: atypical juvenile onset may be the result of CLN2 mutations.

This study indicates that some mutations in the CLN1, CLN2, and CLN3 genes may be associated with late onset of the disease process, may have a more benign clinical course, and clinic overlap with other forms of neuronal ceroid lipofuscinosis.

Chromosomal localization of two genes underlying late-infantile neuronal ceroid lipofuscinosis

Evidence is obtained for linkage of the LINCL gene CLN2 with markers on chromosome 11p15.5 and data is presented suggesting that the gene underlying a variant LINCL subtype found in Costa Rica maps to the region defined by the CLN6 locus on chromosome 15q21-23.

Defective intracellular transport of CLN3 is the molecular basis of Batten disease (JNCL)

Significant evidence is provided for a cellular distinction between classical and atypical forms of Batten disease both in neural and non-neural cells and co-localization of the wild-type CLN3 and E295K [corrected] proteins with a synaptic vesicle marker indicates that the ClN3 protein might participate in synapticvesicle transport/transmission.