Batten Disease Overview
Learn About 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)
Lipofuscinoses; Batten disease; Jansky-Bielschowsky; Kufs disease; Spielmeyer-Vogt; Haltia-Santavuori disease; Hagberg-Santavuori 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 an autosomal dominant trait.
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
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.
Baylor College Of Medicine
Joseph Jankovic is a Neurologist in Houston, Texas. Dr. Jankovic and is rated as an Experienced provider by MediFind in the treatment of Batten Disease. His top areas of expertise are Benign Essential Blepharospasm, Drug Induced Dyskinesia, Torticollis, Parkinson's Disease, and Deep Brain Stimulation.
Berge Minassian is a Pediatric Neurologist and a Pediatrics provider in Dallas, Texas. Dr. Minassian and is rated as a Distinguished provider by MediFind in the treatment of Batten Disease. His top areas of expertise are Myoclonic Epilepsy, Epilepsy with Myoclonic-Atonic Seizures, Epilepsy, and Batten Disease. Dr. Minassian is currently accepting new patients.
Neil Hanchard is a Pediatrics specialist and a Medical Genetics provider in Houston, Texas. Dr. Hanchard and is rated as an Experienced provider by MediFind in the treatment of Batten Disease. His top areas of expertise are Micrognathia, Anemia, Malnutrition, and Hypotonia. Dr. Hanchard is currently accepting new patients.
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
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.
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.
Contact your provider if your child shows symptoms of blindness or intellectual disability.
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.
Summary: The goal is to create a solid and harmonious disease registry of patient affected by neuronal ceroid lipofuscinosis (NCLs) that facilitates the collection and management of patients' data over time encouraging the research and the development of future clinical trials. In-depth clinical phenotyping will develop significant clinical outcome measures that can be used in clinical trials and will allo...
Background: CLN3, or Batten disease, is a genetic disorder. This deadly disease leads to decline of brain and nervous system functions. Symptoms of CLN3 typically occur between 4 and 7 years of age. They include changes in how a person sees, thinks, and moves. CLN3 can also cause seizures. No effective treatments for the disease are yet known. There is limited testing of potential therapies. Researchers want ...
Published Date: December 31, 2023
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 C. Dugdale, MD, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.
Elitt CM, Volpe JJ. Degenerative disorders of the newborn. In: Volpe JJ, ed. Volpe's Neurology of the Newborn. 7th ed. Philadelphia, PA: Elsevier; 2025:chap 33.
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.
Seaborg KA, Kwon JM. Neurodegenerative disorders of childhood. In: Kliegman RM, St. Geme JW, Blum NJ, et al, eds. Nelson Textbook of Pediatrics. 22nd ed. Philadelphia, PA: Elsevier; 2025:chap 639.