Moving towards therapies for Juvenile Batten disease?

  title={Moving towards therapies for Juvenile Batten disease?},
  author={Jonathan D. Cooper},
  journal={Experimental Neurology},
  • J. Cooper
  • Published 1 June 2008
  • Biology
  • Experimental Neurology

NCL disease mechanisms.

Neuronal ceroid lipofuscinoses.

Gene Therapy and Battens Disease

The potential clinical benefits of using gene therapy are outlined, and some of the limitations of the trials to date are discussed.

Immune cells perturb axons and impair neuronal survival in a mouse model of infantile neuronal ceroid lipofuscinosis.

The role of inflammatory cells in palmitoyl protein thioesterase 1-deficient mice, a model of infantile neuronal ceroid lipofuscinosis, is investigated, and reconstitution experiments revealed a crucial role of CD8+ T-lymphocytes in pathogenesis.

Cardiac involvement in juvenile neuronal ceroid lipofuscinosis (Batten disease)

Progressive cardiac involvement with repolarization disturbances, ventricular hypertrophy, and sinus node dysfunction occur in JNCL and other neuronal ceroid lipofuscinosis subtypes should be intensified.

Osmotic Stress Changes the Expression and Subcellular Localization of the Batten Disease Protein CLN3

The results reveal that CLN3 has multiple subcellular localizations within the cell, which, together with its expression, prominently change following osmotic stress, and suggest that ClN3 is involved in the response and adaptation to cellular stress.

Neuronal Ceroid Lipofuscinosis

Batten the mistery disease: A brief on batten disease

The earliest symptoms range from being fairly obvious, with a child experiencing seizures or vision problems, through to subtle signs such as mild personality changes or clumsiness, which gradually the authors controll over the disease.



An autoantibody to GAD65 in sera of patients with juvenile neuronal ceroid lipofuscinoses

It is plausible to predict that the GAD65 autoantibody and its resultant effects on the brain are possible contributors to the pathology associated with Batten disease.

A mouse gene knockout model for juvenile ceroid‐lipofuscinosis (batten disease)

A mouse model generated by targeted disruption of the mouse ortholog of the CLN3 gene validates the Cln3 knockout mice as a model for the human disorder.

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.

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.

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

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.

Timing of therapeutic intervention determines functional and survival outcomes in a mouse model of late infantile batten disease.

Injections before disease onset prevented storage and spared neurons from axonal degeneration, reflected by the preservation of motor function, which may provide guidance in designing novel treatment strategies for cLINCL patients.

Phenotypic characterization of a mouse model of juvenile neuronal ceroid lipofuscinosis

Targeted Disruption of the Cln3 Gene Provides a Mouse Model for Batten Disease

Evidence is found that the Cln3-deficient mouse provides a valuable model for studying Batten disease and there was increased activity in the brain of the lysosomal protease Cln2/TPP-1.

Molecular genetics of the NCLs -- status and perspectives.

IgG entry and deposition are components of the neuroimmune response in Batten disease