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Batten disease refers to a group of rare, inherited neurodegenerative disorders that primarily affect the brain and nervous system. Scientifically, it is known as neuronal ceroid lipofuscinosis (NCL).

Nature of the Disease

• It is a congenital, progressive, and terminal neurological disorder.
• Onset may occur in infancy, childhood (most commonly), or rarely adulthood, often after an initial period of normal development.
• The disease leads to a gradual and irreversible decline in nervous system function.

Genetic Basis

• Batten disease is caused by mutations in a group of genes collectively called CLN genes.
• There are 13–14 recognised forms (CLN1 to CLN14), each linked to a different gene mutation.
• CLN3 disease is the most common form, typically manifesting between 4–7 years of age.

Clinical Features

• Early symptoms often include progressive vision loss, which is usually the first noticeable sign.
• Other major manifestations:
  • Seizures
  • Cognitive decline
  • Loss of motor coordination and speech
  • Behavioural and learning difficulties
• In advanced stages, affected individuals may become blind, non-ambulatory, unable to speak or swallow, and require full-time care.
• Life expectancy varies by subtype and age of onset, ranging from early childhood to the second or third decade of life.

Treatment Status

• No curative treatment exists at present.
• Management is symptomatic, including:
  • Anti-epileptic drugs for seizures
  • Physical and occupational therapy to maintain function and quality of life
• Several gene therapy approaches are currently under advanced research and experimental stages.

Recent Scientific Developments

Recent research has highlighted that sex and age significantly influence disease progression, particularly in CLN3 Batten disease.

• Researchers from the University of Rochester used electroencephalography (EEG) to non-invasively track brain function.
• Studies on mouse models of CLN3 disease revealed:
  • Male mice showed early auditory processing deficits that partially improved with age.
  • Female mice exhibited persistent auditory and brainwave abnormalities, indicating faster or more sustained progression.
• Similar EEG-based biomarkers had earlier been identified in human CLN3 patients, enabling better disease monitoring.
• The findings were published in the Journal of Neurodevelopmental Disorders.

Significance

• Confirms that Batten disease progression differs by sex, with females often showing later onset but more rapid progression.
• Establishes EEG-based neuromarkers as a reliable tool to track disease progression.
• Provides a translational animal model to test emerging therapies, especially gene-based interventions.
• Supports the future development of personalised and time-sensitive treatment strategies.