Juvenile neuronal ceroid lipofuscinosis
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Juvenile neuronal ceroid lipofuscinosis (JNCL) is a neurodegenerative genetic condition characterized by progressive mental and motor deterioration, seizures, and early death. Symptoms of JNCL typically appear between the ages of four and ten years. Rapid vision loss resulting in total blindness is usually the first symptom observed. Followed by seizures which typically present between ages five and 18 years. Life expectancy generally ranges from the late teens to the 30's. JNCL is inherited in an autosomal recessive fashion and has been associated with mutations in a gene called the CLN3. Although a cure has not been identified for JNCL, treatment for the symptoms is available.[1]
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- More Detailed Information (Found: 5 Resources)
Links where you can find more general information, comprehensive resources, selected full text journal articles, and news updates
- General
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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.
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The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
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The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Juvenile neuronal ceroid lipofuscinosis. Click on the link to go to OMIM and review these resources.
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PubMed is a searchable database of medical literature and lists journal articles that discuss Juvenile neuronal ceroid lipofuscinosis. Click on the link to view a sample search on this topic.
- Management Guidelines
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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. Click on the link to view the article on this topic.
- Support Groups (Found: 10 Resources)
Groups providing a wide range of services, supportive resources, and information
- Umbrella Organizations
- Disease-Specific Organizations
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Children's Brain Disease Foundation
Parnassus Heights Medical Building, Suite 900
San Francisco, CA 94117
Telephone: 415-665-3003
Fax: 415-665-3003
E-mail: jrider6022@aol.com
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Nathan's Battle Foundation
459 South State Road 135 South
Greenwood, IN 46142
Telephone: 317-888-7396
Fax: 317-888-0504
E-mail: pmilto@indy.net
Web site: http://www.nathansbattle.com
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Hide and Seek Foundation for Lysosomal Storage Disease Research
4123 Lankershim Boulevard
Suite 302
No. Hollywood, CA 91602-2828
Telephone: 818-762-8621
Fax: 818-762-2502
E-mail: info@hideandseek.org
Web site: http://www.hideandseek.org
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National Tay-Sachs and Allied Diseases Association
2001 Beacon Street
Suite 204
Brighton, MA 02135
Telephone: 617-277-4463 800-90-NTSAD (906-8723)
Fax: 617-277-0134
E-mail: info@ntsad.org
Web site: http://www.ntsad.org
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Children Living with Inherited Metabolic Diseases (CLIMB)
Climb Building
176 Nantwich Road
Crewe CW2 6BG
United Kingdom
Phone: 0800 652 3181 (toll free)
Email: info.svcs@climb.org.uk
Web site: www.climb.org.uk
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Batten Disease Support and Research Association (BDSRA)
166 Humphries Drive
Reynoldsburg, OH 43068
Toll-Free: 1-800-448-4570
Telephone: 740-927-4298
Fax: 740-927-7683
E-mail: bdsra1@bdsra.org
Website: http://www.bdsra.org/
- Live Chat
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The National Organization of Rare Disorders (NORD) has partnered with Inspire.com to launch an online community for people with rare diseases called The NORD Rare Disease Community. This community connects medical patients, family members, caregivers, and professionals. Click on The NORD Rare Disease Community to learn more.
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RareShare is an online social hub dedicated to patients, families and healthcare professionals affected by rare medical disorders. Click on RareShare to learn more.
- Clinical Trials & Research (Found: 5 Resources)
Resources where you may find research studies and clinical trials
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ClinicalTrials.gov lists trials that are studying or have studied Juvenile neuronal ceroid lipofuscinosis. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.
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GeneTests lists laboratories offering research genetic testing for this condition. Research genetic tests may be used to find disease-causing genes, learn how genes work, or aid in the understanding of a genetic disorder. In many cases test results are not shared with the patient or physician. Talk to your health care provider or a genetic professional to learn more about research testing for this condition.
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The National Institute of Neurological Disorders and Stroke (NINDS) funds two national human brain banks. These banks provide researchers worldwide with tissue from patients with neurological and psychiatric disorders. Both banks need brain tissue from Batten disease patients to enable scientists to study the disease more closely.
The Human Brain and Spinal Fluid Resource Center
Neurology Research (127A)
W. Los Angeles Healthcare Center
11301 Wilshire Blvd. Bldg. 212
Los Angeles, CA 90073
Telephone: 310-268-3536
24-hour pager: 310-636-5199
Fax: 310-268-4768
E-mail: brainbnk@ucla.edu
Web site: http://www.loni.ucla.edu/uclabrainbank/
Francine M. Benes, M.D., Ph.D.
Harvard Brain Tissue Resource Center
McLean Hospital
115 Mill Street
Belmont, Massachusetts 02478
Toll-free: 1-800-BRAIN-BANK (800-272-4622)
Telephone: 617-855-2400
Web site: http://www.brainbank.mclean.org
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The following organizations provide researchers with nervous system tissues from patients with neurological disorders.
National Disease Research Interchange (NDRI)
8 Penn Center
8th Floor
Philadelphia, PA 19103
Toll-free: 1-800-222-NDRI (800-222-6374)
Telephone: 215-557-7361
Fax: 215-557-7154 or 215-557-8187
Contact Us Web page: http://www.ndriresource.org/Contact_Us/19/
Web site: http://www.ndriresource.org/
Brain Endowment Bank
University of Miami
Leonard M. Miller School of Medicine
Department of Neurology
1501 NW 9th Avenue
Room 4013 (D4-5)
Miami, Florida 33101
Toll-free: 1-800-UM-BRAIN (800-86-27246)
Telephone: 305-243-6219
Fax: 305-243-3649
Contact Us Web page: http://brainbank.med.miami.edu/x54.xml
Web site: http://brainbank.med.miami.edu/x7.xml
- Patient Registry
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National Batten Disease Registry
Contact: K. Wisniewski M.D., Ph.D.
Department of Neurobiology
NYS Institute for Basic Research
1050 Forest Hill Road
Staten Island, NY 10314
Telephone: 718-494-0600/5202
Fax: 718-698-3803
E-mail: BattenKW@aol.com
- Services (Found: 2 Resources)
Links to Web sites that offer services, such as tools to locate specialists, specialty clinics, genetic services, and genetic testing laboratories
- Testing
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GeneTests lists laboratories offering clinical genetic testing for this condition. Clinical genetic tests are ordered to help diagnose a person or family and to aid in decisions regarding medical care or reproductive issues. Talk to your health care provider or a genetic professional to learn more about your testing options.
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Orphanet lists international laboratories offering diagnostic testing for this condition. Click here and scroll down the page to learn more about the processes of certification, accreditation, and external quality assessment available to these labs. Click on Orphanet to view the list.
- NLM Gateway
A tool to search across multiple resources offered on the National Library of Medicine's Website
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The NLM Gateway allows users to search across multiple resources offered on the National Library of Medicine's Web site. Some of these resources may be duplicated in the list of links above. Click on the link to go to the NLM Gateway, and search by condition name.