Neuronal ceroid lipofuscinosis 2

Title

Other Names:

CLN2; Jansky-Bielschowsky disease; CLN2 disease, late infantile (subtype); CLN2; Jansky-Bielschowsky disease; CLN2 disease, late infantile (subtype); CLN2 disease, juvenile (subtype) See More

Categories:

Congenital and Genetic Diseases; Metabolic disorders; Nervous System Diseases; Congenital and Genetic Diseases; Metabolic disorders; Nervous System Diseases; RDCRN See More

This disease is grouped under:

Neuronal ceroid lipofuscinosis

Summary Summary

Neuronal ceroid lipofuscinosis 2 (CLN2) is a type of neuronal ceroid lipofuscinosis (NCL), a group of severe diseases that affect the nervous system. Symptoms of the CLN2 generally develop between ages two and four years, although later onset cases have been reported. Children with CLN2 may experience speech delay, seizures that do not respond to medications, loss of muscle coordination (ataxia), muscle twitches (myoclonus), loss of vision, developmental delay, and intellectual disability. Symptoms of CLN2 worsen as the child gets older (progressive).^[1]^[2]^[3]

CLN2 is caused by changes (pathogenic variations) in the TPP1 gene and is inherited in an autosomal recessive manner.^[4]^[3] Although there is no medication that can currently cure CLN2, in the Spring of 2017 both the United States Food and Drug Administration (FDA) and the European Commission approved the use of cerliponase alfa (brand name: Brineura) for children with CLN2. In clinical studies, cerliponase alfa was shown to slow down the progression of the disease.^[5] In addition, other medications and therapies can help relieve some of the symptoms of CLN2.^[1]^[2]^[3]

Please note: Batten disease originally referred specifically to the juvenile and most common form of NCL, now known as CLN3. However, the term Batten disease is increasingly used to describe all forms of NCL. All types of NCL also belong to a larger group of diseases known as lysosomal storage disorders.^[1]

Last updated: 1/9/2018

Symptoms Symptoms

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
Percent of people who have these symptoms is not available through HPO
Abnormal nervous system electrophysiology		0001311
Ataxia		0001251
Autosomal recessive inheritance		0000007
Cerebral atrophy	Degeneration of cerebrum	0002059
Curvilinear intracellular accumulation of autofluorescent lipopigment storage material		0003205
Delayed speech and language development	Deficiency of speech development Delayed language development Delayed speech Delayed speech acquisition Delayed speech development Impaired speech and language development Impaired speech development Language delay Language delayed Language development deficit Late-onset speech development Poor language development Speech and language delay Speech and language difficulties Speech delay [ more ]	0000750
Developmental regression	Loss of developmental milestones Mental deterioration in childhood [ more ]	0002376
Increased extraneuronal autofluorescent lipopigment		0003463
Increased neuronal autofluorescent lipopigment		0002074
Myoclonus		0001336
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
Retinal degeneration	Retina degeneration	0000546
Seizures	Seizure	0001250
Undetectable electroretinogram		0000550

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Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 11/1/2018

Do you have updated information on this disease? We want to hear from you.

Diagnosis Diagnosis

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.

Treatment Treatment

FDA-Approved Treatments

The medication(s) listed below have been approved by the Food and Drug Administration (FDA) as orphan products for treatment of this condition. Learn more orphan products.

Cerliponase alfa (Brand name: Brineura) - Manufactured by BioMarin Pharmaceutical, Inc.
FDA-approved indication: To slow the progression of loss of ambulation in symptomatic pediatric patients 3 years of age and older with late infantile neuronal ceroid lipofuscinosis type 2 (CLN2), also known as tripeptidyl peptidase 1 (TPP1) deficiency.
National Library of Medicine Drug Information Portal

Find a Specialist Find a Specialist

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

The Batten Disease Support and Research Association has a list of Batten Disease Centers of Excellence. These centers have a team of professionals who are knowledgeable about, and have experience treating, all forms of Batten disease.
To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Research Research

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 2. 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.
Orphanet lists European clinical trials, research studies, and patient registries enrolling people with this condition.

Patient Registry

Batten Disease Registry
Contact: Jonathan Mink, MD PhD
University of Rochester Batten Center
Batten Study Group
601 Elmwood Ave
Box 631
Rochester , NY 14642
Telephone: 585-275-4762
Fax: 585-275-3683 (Attn Amy Vierhile)
E-mail: batten@urmc.rochester.edu

Organizations Organizations

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

Batten Disease Support and Research Association (BDSRA)
2780 Airport Drive, Suite 342
Columbus, OH 43219
Toll-free: 1-800-448-4570
Fax: 1-866-648-8718
E-mail: https://bdsra.org/contact-us/
Website: https://bdsra.org/

Do you know of an organization? We want to hear from you.

Living With Living With

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

The Social Security Administration has included this condition in their Compassionate Allowances Initiative. This initiative speeds up the processing of disability claims for applicants with certain medical conditions that cause severe disability. More information about Compassionate Allowances and applying for Social Security disability is available online.

Learn More Learn More

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 2. 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.

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.
The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
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 2. Click on the link to view a sample search on this topic.

News & Events News & Events

News

National Family Health History Day
November 20, 2018
The NIH Undiagnosed Diseases Network Expands
September 26, 2018

GARD Answers GARD Answers

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.

Have a question? Contact a GARD Information Specialist.

References References

Mole SE, Williams RE. Neuronal Ceroid-Lipofuscinoses. GeneReviews. August 1, 2013; https://www.ncbi.nlm.nih.gov/books/NBK1428/.
Chang CH. Neuronal Ceroid Lipofuscinoses. Medscape Reference. May 4, 2017; https://emedicine.medscape.com/article/1178391-overview.
Williams RE, Adams HR, Blohm M, et al. Management Strategies for CLN2 Disease. Pediat Neurol. April 2017; 69:102-112. https://bdsra.org/wp-content/uploads/2014/06/Williams_2017_Management-strategies-for-CLN2-disease.pdf.
CLN2 disease. Genetics Home Reference. November 2016; https://ghr.nlm.nih.gov/condition/cln2-disease.
Markham A. Cerliponase Alfa: First Global Approval. Drugs. July 2017; 77(11):1247-1249. https://www.ncbi.nlm.nih.gov/pubmed/28589525.