Learn About Batten Disease

What is the definition of Batten Disease?

Neuronal ceroid lipofuscinoses (NCL) refers to a group of rare disorders of the nerve cells. NCL is passed down through families (inherited).

These are the three main types of NCL:

  • Adult (Kufs or Parry disease)
  • Juvenile (Batten disease)
  • Late infantile (Jansky-Bielschowsky disease)
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What are the alternative names for Batten Disease?

Lipofuscinoses; Batten disease; Jansky-Bielschowsky; Kufs disease; Spielmeyer-Vogt; Haltia-Santavuori disease; Hagberg-Santavuori disease

What are the causes of Batten Disease?

NCL involves the buildup of an abnormal material called lipofuscin in the brain. NCL is thought to be caused by problems with the brain's ability to remove and recycle proteins.

Lipofuscinoses are inherited as autosomal recessive traits. This means each parent passes on a nonworking copy of the gene for the child to develop the condition.

Only one adult subtype of NCL is inherited as autosomal dominant trait.

What are the symptoms of Batten Disease?

Symptoms of NCL include:

  • Abnormally increased muscle tone or spasm
  • Blindness or vision problems
  • Dementia
  • Lack of muscle coordination
  • Intellectual disability
  • Movement disorder
  • Loss of speech
  • Seizures
  • Unsteady walk
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What are the current treatments for Batten Disease?

There is no cure for NCL disorders. Treatment depends on the type of NCL and extent of symptoms. Your health care provider may prescribe muscle relaxants to control irritability and sleep disturbances. Medicines may also be prescribed to control seizures and anxiety. A person with NCL may need lifelong assistance and care.

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What are the support groups for Batten Disease?

More information and support for people with NCL condition and their families can be found at:

  • Genetic and Rare Diseases Information Center -- rarediseases.info.nih.gov/diseases/10973/adult-neuronal-ceroid-lipofuscinosis
  • Batten Disease Support and Research Association -- bdsrafoundation.org
What is the outlook (prognosis) for Batten Disease?

The younger the person is when the disease appears, the greater the risk for disability and early death. Those who develop the disease early can have vision problems that progress to blindness and problems with mental function that get worse. If the disease starts in the first year of life, death by age 10 is likely.

If the disease occurs in adulthood, symptoms will be milder, with no vision loss and a normal life expectancy.

What are the possible complications of Batten Disease?

These complications can occur:

  • Vision impairment or blindness (with the early-onset forms of the disease)
  • Mental impairment, ranging from severe developmental delays at birth to dementia later in life
  • Rigid muscles (due to severe problems with the nerves that control muscle tone)

The person may become totally dependent on others for help with daily activities.

When should I contact a medical professional for Batten Disease?

Call your provider if your child shows symptoms of blindness or intellectual disability.

How do I prevent Batten Disease?

Genetic counseling is recommended if your family has a known history of NCL. Prenatal tests, or a test called preimplantation genetic diagnosis (PGD), may be available, depending on the specific type of disease. In PGD, an embryo is tested for abnormalities before it is implanted in the woman's womb.

What are the latest Batten Disease Clinical Trials?
Clinical and Neuropsychological Investigations in Batten Disease

Summary: This study aims to assess the natural history of Batten disease (Neuronal Ceroid Lipofuscinosis) by obtaining information about the motor, behavioral, and functional capabilities of individuals with Batten disease. This study will also refine and validate the Unified Batten Disease Rating Scale (UBDRS) as a clinical rating instrument for Batten disease.

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Natural History and Long Term Clinical Assessments of All Forms of Neuronal Ceroid Lipofuscinoses - Capturing Key Symptoms and Disease Progression as Part of the Independent, International NCL DEM-CHILD Patient Database

Summary: This is an observational study that aims at assessing the natural history of NCL diseases as part of the international DEM-CHILD Database. Patient data are collected from medical records, patient questionnaires and routine follow up clinical examinations with focus on assessing progression in key areas of disease such as motor, language, cognition, seizures, vision, and behavior. A local bioreposi...

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Who are the sources who wrote this article ?

Published Date: November 01, 2021
Published By: Anna C. Edens Hurst, MD, MS, Associate Professor in Medical Genetics, The University of Alabama at Birmingham, Birmingham, AL. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.

What are the references for this article ?

Elitt CM, Volpe JJ. Degenerative disorders of the newborn. In: Volpe JJ, Inder TE, Darras BT, et al, eds. Volpe's Neurology of the Newborn. 6th ed. Philadelphia, PA: Elsevier; 2018:chap 29.

Glykys J, Sims KB. The neuronal ceroid lipofuscinosis disorders. In: Swaiman KF, Ashwal S, Ferriero DM, et al, eds. Swaiman's Pediatric Neurology: Principles and Practice. 6th ed. Philadelphia, PA: Elsevier; 2017:chap 48.

Kwon JM. Neurodegenerative disorders of childhood. In: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Textbook of Pediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020:chap 617.

Pearl PL, DiBacco ML, Gibson KM. Inborn errors of metabolism and the nervous system. In: Jankovic J, Mazziotta JC, Pomeroy SL, Newman NJ, eds. Bradley and Daroff's Neurology in Clinical Practice. 8th ed. Philadelphia, PA: Elsevier; 2022:chap 91.