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:
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 autosomal dominant trait.
Symptoms of NCL include:
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.
Zhongjian Zhang practices in Xinxiang, China. Zhang is rated as an Elite expert by MediFind in the treatment of Batten Disease. They are also highly rated in 6 other conditions, according to our data. Their top areas of expertise are CLN2 Disease, CLN4 Disease, Batten Disease, and CLN3 Disease.
Sara Mole practices in London, United Kingdom. Mole is rated as an Elite expert by MediFind in the treatment of Batten Disease. She is also highly rated in 6 other conditions, according to our data. Her top areas of expertise are CLN2 Disease, CLN1 Disease, CLN3 Disease, and CLN4 Disease.
Goutam Chandra practices in Barddhaman, India. Chandra is rated as an Elite expert by MediFind in the treatment of Batten Disease. They are also highly rated in 8 other conditions, according to our data. Their top areas of expertise are CLN4 Disease, CLN3 Disease, CLN1 Disease, and CLN5 Disease.
More information and support for people with NCL condition and their families can be found at:
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:
The person may become totally dependent on others for help with daily activities.
Call 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: 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.
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...
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.
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