National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Neuronal ceroid lipofuscinosis 3


Other Names:
Juvenile neuronal ceroid lipofuscinosis; Vogt Spielmeyer disease; Spielmeyer Sjogren disease; Juvenile neuronal ceroid lipofuscinosis; Vogt Spielmeyer disease; Spielmeyer Sjogren disease; CLN3 disease, juvenile See More
Categories:
This disease is grouped under:
Neuronal ceroid lipofuscinosis 3 (CLN3-NCL) is a rare condition that affects the nervous system. Signs and symptoms generally develop between age 4 and 8 years, although later onset cases have been reported. Affected people may experience rapidly progressive vision loss, developmental regression (loss of acquired milestones), cognitive decline, heart problems, seizures, speech disturbances, behavioral problems (including aggression), and movement abnormalities. Life expectancy generally ranges from the late teens to the 30's. CLN3-NCL is caused by changes (mutations) in the CLN3 gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms.[1][2]
Last updated: 9/1/2015

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abnormal electroretinogram 0000512
Abnormal pyramidal sign 0007256
Abnormality of extrapyramidal motor function 0002071
Abnormality of visual evoked potentials 0000649
Ataxia 0001251
Behavioral abnormality
Behavioral changes
Behavioral disorders
Behavioral disturbances
Behavioral problems
Behavioral/psychiatric abnormalities
Behavioural/Psychiatric abnormality
Psychiatric disorders
Psychiatric disturbances
[ more ] 		0000708
Bilateral tonic-clonic seizure
Grand mal seizures
0002069
Blindness 0000618
Dementia
Dementia, progressive
Progressive dementia
[ more ] 		0000726
EEG abnormality 0002353
Focal-onset seizure
Seizure affecting one half of brain
0007359
Iris hypopigmentation
Light eye color
0007730
Motor deterioration
Progressive degeneration of movement
0002333
Neurological speech impairment
Speech disorder
Speech impairment
Speech impediment
[ more ] 		0002167
Retinopathy
Noninflammatory retina disease
0000488
Percent of people who have these symptoms is not available through HPO
Abnormal cerebellum morphology
Abnormality of the cerebellum
Cerebellar abnormalities
Cerebellar abnormality
Cerebellar anomaly
[ more ] 		0001317
Anxiety
Excessive, persistent worry and fear
0000739
Autosomal recessive inheritance 0000007
Cataract
Clouding of the lens of the eye
Cloudy lens
[ more ] 		0000518
Cerebral atrophy
Degeneration of cerebrum
0002059
Concentric hypertrophic cardiomyopathy 0005157
Curvilinear intracellular accumulation of autofluorescent lipopigment storage material 0003205
Dysarthria
Difficulty articulating speech
0001260
Fingerprint intracellular accumulation of autofluorescent lipopigment storage material 0003208
Glaucoma 0000501
Increased extraneuronal autofluorescent lipopigment 0003463
Increased neuronal autofluorescent lipopigment 0002074
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] 		0001249
Macular degeneration 0000608
Myoclonus 0001336
Optic atrophy 0000648
Parkinsonism 0001300
Progressive inability to walk 0002505
Progressive visual loss
Progressive loss of vision
Progressive vision loss
Progressive visual impairment
Slowly progressive visual loss
Vision loss, progressive
Visual loss, progressive
[ more ] 		0000529
Psychomotor deterioration 0002361
Psychosis 0000709
Rod-cone dystrophy 0000510
Seizure 0001250
Undetectable electroretinogram 0000550
Vacuolated lymphocytes 0001922
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Last updated: 7/1/2020
Neuronal ceroid lipofuscinosis 3 (CLN3-NCL) is caused by changes (mutations) in the CLN3 gene. This gene provides instructions for making a protein whose function is unknown. However, it appears to be important for the normal function of cell structures call lysosomes.[3]

Although researchers do not completely understand how mutations in the CLN3 gene lead to the signs and symptoms of CLN3-NCL, they appear to disrupt the function of lysosomes (structures in the cell that normally digest and recycle different substances). When the lysosomes don't work properly, lipopigments (materials made of fats and proteins) build up in cells of the brain and the eye as well as in skin, muscle, and many other tissues. Researchers believe that this build up plays a key role in the development of the many features of CLN3-NCL.[3]
Last updated: 9/1/2015

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
  • Orphanet lists international laboratories offering diagnostic testing for this condition.

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
During the initial stage of the disease; retinitis pigmentosa (see this term) may be suspected. Later in the disease course; the differential diagnosis may also include other causes of dementia and seizures at school age, including mitochondrial disorders and subacute sclerosing panencephalitis (see this term).
Visit the Orphanet disease page for more information.

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • ClinicalTrials.gov lists trials that are related to Neuronal ceroid lipofuscinosis 3. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

    Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

Patient Registry

  • A registry supports research by collecting of information about patients that share something in common, such as being diagnosed with Neuronal ceroid lipofuscinosis 3. The type of data collected can vary from registry to registry and is based on the goals and purpose of that registry. Some registries collect contact information while others collect more detailed medical information. Learn more about registries.

    Registries for Neuronal ceroid lipofuscinosis 3:
    Batten Disease Registry
     
  • The Lysosomal Disease Network is a team of doctors, nurses, research coordinators, and research labs throughout the U.S., working together to improve the lives of people with this condition through research. The Lysosomal Disease Network has a registry for patients who wish to be contacted about clinical research opportunities.

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Financial Resources

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • Genetics Home Reference (GHR) contains information on Neuronal ceroid lipofuscinosis 3. This website is maintained by the National Library of Medicine.
  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
  • The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.
  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Neuronal ceroid lipofuscinosis 3. Click on the link to view a sample search on this topic.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

  • Are there any exogenous (outside) factors that cause or worsen Batten disease? See answer


  1. Mole SE, Williams RE. Neuronal Ceroid-Lipofuscinoses. GeneReviews. August 1, 2013; https://www.ncbi.nlm.nih.gov/books/NBK1428/.
  2. Chang CH. Neuronal Ceroid Lipofuscinoses. Medscape Reference. May 4, 2017; https://emedicine.medscape.com/article/1178391-overview.
  3. Juvenile Batten disease. Genetics Home Reference. September 2013; http://ghr.nlm.nih.gov/condition/juvenile-batten-disease.