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Related Experiment Videos

Batten disease: past, present, and future.

J A Rider1, D L Rider

  • 1Children's Brain Diseases Foundation, San Francisco, California 94117.

American Journal of Medical Genetics. Supplement
|January 1, 1988
PubMed
Summary

Batten disease, a group of rare genetic disorders, is shifting from clinical diagnosis to specific diagnostic tests. Future focus includes prevention and treatment through gene or enzyme replacement therapies.

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Batten disease research--where we were--where we are--where we are going.

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Thirty years of Batten disease research: present status and future goals.

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Batten disease, a twenty-eight-year struggle: past, present and future.

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Perspective of biochemical research in the neuronal ceroid-lipofuscinosis.

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Area of Science:

  • Neurology
  • Genetics
  • Pediatrics

Background:

  • Batten disease, also known as neuronal ceroid lipofuscinosis (NCL), encompasses a spectrum of inherited neurodegenerative disorders.
  • Historically, diagnosis relied on clinical presentation, with various infantile, late infantile, juvenile, and adult forms.
  • These progressive, disabling, and ultimately fatal conditions significantly impact affected individuals and families.

Observation:

  • The diagnostic approach to Batten disease has evolved significantly.
  • Current efforts emphasize the development and application of specific diagnostic tests.
  • This shift facilitates earlier and more accurate identification of affected individuals.

Findings:

  • The transition from clinical diagnosis to molecular and biochemical testing is a key development.
  • Specific diagnostic tests enable precise identification of the different NCL subtypes.
  • This advancement is crucial for understanding disease heterogeneity.

Implications:

  • Early and accurate diagnosis is paramount for effective patient management and family support.
  • Advances in diagnostics pave the way for targeted therapeutic strategies.
  • Future research directions include the development of novel treatments such as enzyme replacement or gene replacement therapies, and preventative measures.

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