The neuronal ceroid lipofuscinoses

@article{Weimer2007TheNC,
  title={The neuronal ceroid lipofuscinoses},
  author={Jill M. Weimer and Elizabeth Kriscenski-Perry and Yasser M Elshatory and David A. Pearce},
  journal={NeuroMolecular Medicine},
  year={2007},
  volume={1},
  pages={111-124}
}
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… 

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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.

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  • R. Huber
  • Biology
    Journal of Biomedical Science
  • 2020
TLDR
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.

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

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

TLDR
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Human and rat brain lipofuscin proteome

TLDR
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

TLDR
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.

References

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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
TLDR
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.

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

TLDR
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

TLDR
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

TLDR
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

TLDR
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.

Batten disease: evaluation of CLN3 mutations on protein localization and function.

TLDR
Data suggest that these clinically relevant point mutations, causative of Batten disease, do not affect protein trafficking but rather exert their effects by impairing protein function.

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

TLDR
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

TLDR
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.
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