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Related Experiment Video

Updated: May 10, 2026

Assay to Measure Nucleocytoplasmic Transport in Real Time within Motor Neuron-like NSC-34 Cells

Assay to Measure Nucleocytoplasmic Transport in Real Time within Motor Neuron-like NSC-34 Cells

Published on: May 16, 2017

The neuronal ceroid-lipofuscinoses.

Michael J Bennett¹, Dinesh Rakheja

¹Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia and Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA. bennettmi@email.chop.edu

Developmental Disabilities Research Reviews

|June 26, 2013

Summary

This summary is machine-generated.

Neuronal ceroid-lipofuscinoses (NCLs), or Batten disease, are severe childhood neurodegenerative disorders. Current research identifies ten genes but lacks understanding of pathogenesis and effective treatments.

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Last Updated: May 10, 2026

Assay to Measure Nucleocytoplasmic Transport in Real Time within Motor Neuron-like NSC-34 Cells

Assay to Measure Nucleocytoplasmic Transport in Real Time within Motor Neuron-like NSC-34 Cells

Published on: May 16, 2017

Area of Science:

Neuroscience
Genetics
Pediatrics

Background:

Neuronal ceroid-lipofuscinoses (NCLs), also known as Batten disease, are a group of severe neurodegenerative disorders primarily affecting children.
Clinical manifestations include vision loss, seizures, motor and cognitive decline, and premature death, with autopsies revealing significant neuronal loss and cellular storage.

Purpose of the Study:

To summarize the current understanding of NCLs, including genetic causes, clinical presentation, and diagnostic approaches.
To highlight the knowledge gaps in NCL pathogenesis and the absence of available treatments.

Main Methods:

Review of existing literature on NCLs.
Identification of ten causative genes (CLN1-10), with CLN1, CLN2, and CLN3 being the most common forms.
Description of diagnostic methods, including enzyme assays for CLN1 and CLN2 and molecular genetic testing.

Main Results:

Ten genes associated with NCLs have been identified.
Mutations in CLN1 and CLN2 involve lysosomal enzymes palmitoyl-protein thioesterase (PPT) and tripeptidyl peptidase 1 (TPP1), respectively.
Diagnostic testing is available for CLN1, CLN2, and CLN3, with broader gene sequencing for other forms.

Conclusions:

NCLs are a heterogeneous group of neurodegenerative diseases with significant childhood impact.
The underlying mechanisms of neuronal loss in NCLs remain largely unknown.
There are currently no effective treatment options for NCLs, underscoring the need for further research.