Batten Disease

Common Name(s)

Batten Disease, Ceroid Lipofuscinosis Neuronal 3, Spielmeyer-Vogt disease

Batten disease is a neurodegenerative genetic condition characterized by progressive mental and motor deterioration, seizures, and early death. Symptoms of Batten disease 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. Batten disease 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 Batten disease, treatment for the symptoms is available.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Batten Disease" for support, advocacy or research.

Batten Disease Support and Research Association

Our mission is to be an international support and research networking organization for families of children and young adults with an inherited neurological degenerative disorder known as Batten disease.

Last Updated: 7 Oct 2014

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Beyond Batten Disease Foundation

Beyond Batten Disease Foundation was established to eradicate Batten disease. We seek to accomplish our mission in two ways: 1.Raise awareness and money to accelerate research to find a cure for Batten disease. 2.Develop an easy and inexpensive blood test to detect the gene mutations for Batten disease, and hundreds of other rare conditions like it, that claim the lives of thousands of children each year.

Last Updated: 15 Feb 2013

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CNS Foundation

CNS Foundation's Mission is Three-fold: - Expedite scientific research to find treatments and cures for the more than 14 million children living with some form of neurological disorder - Provide families and health care professionals with up-to-date information and resources on the latest discoveries in pediatric neurology - Educate the public, and public officials, on the critical importance of funding pediatric neurological disorder research

Last Updated: 12 Oct 2013

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Hayden's Batten Disease Foundation Inc

The mission of Hayden’s Batten Disease Foundation Inc is to help children with Batten Disease receive treatment, to provide funding for Batten Disease research and promote awareness of this incurable genetic disorder and the devastating affect it has on children.

Last Updated: 15 Mar 2013

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General Support Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Batten Disease" for support, advocacy or research.

Batten Disease Support and Research Association

Our mission is to be an international support and research networking organization for families of children and young adults with an inherited neurological degenerative disorder known as Batten disease.

http://www.bdsra.org/

Last Updated: 7 Oct 2014

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Beyond Batten Disease Foundation

Beyond Batten Disease Foundation was established to eradicate Batten disease. We seek to accomplish our mission in two ways: 1.Raise awareness and money to accelerate research to find a cure for Batten disease. 2.Develop an easy and inexpensive blood test to detect the gene mutations for Batten disease, and hundreds of other rare conditions like it, that claim the lives of thousands of children each year.

http://beyondbatten.org/

Last Updated: 15 Feb 2013

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CNS Foundation

CNS Foundation's Mission is Three-fold: - Expedite scientific research to find treatments and cures for the more than 14 million children living with some form of neurological disorder - Provide families and health care professionals with up-to-date information and resources on the latest discoveries in pediatric neurology - Educate the public, and public officials, on the critical importance of funding pediatric neurological disorder research

http://www.cnsfoundation.org

Last Updated: 12 Oct 2013

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Hayden's Batten Disease Foundation Inc

The mission of Hayden’s Batten Disease Foundation Inc is to help children with Batten Disease receive treatment, to provide funding for Batten Disease research and promote awareness of this incurable genetic disorder and the devastating affect it has on children.

http://www.helphayden.com

Last Updated: 15 Mar 2013

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General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Batten Disease" returned 61 free, full-text research articles on human participants. First 3 results:

Spectrum of ocular manifestations in CLN2-associated batten (Jansky-Bielschowsky) disease correlate with advancing age and deteriorating neurological function.
 

Author(s): Anton Orlin, Dolan Sondhi, Matthew T Witmer, Matthew M Wessel, Jason G Mezey, Stephen M Kaminsky, Neil R Hackett, Kaleb Yohay, Barry Kosofsky, Mark M Souweidane, Michael G Kaplitt, Donald J D'Amico, Ronald G Crystal, Szilárd Kiss

Journal:

 

Late infantile neuronal ceroid lipofuscinosis (LINCL), one form of Batten's disease is a progressive neurodegenerative disorder resulting from a CLN2 gene mutation. The spectrum of ophthalmic manifestations of LINCL and the relationship with neurological function has not been previously described.

Last Updated: 9 Sep 2013

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Considerations for the treatment of infantile neuronal ceroid lipofuscinosis (infantile Batten disease).
 

Author(s): Mark S Sands

Journal: J. Child Neurol.. 2013 Sep;28(9):1151-8.

 

The infantile form of neuronal ceroid lipofuscinosis (ie, infantile Batten disease) is the most rapidly progressing type and is caused by an inherited deficiency in the lysosomal enzyme palmitoyl protein thioesterase 1. The absence of enzyme activity leads to progressive accumulation ...

Last Updated: 9 Sep 2013

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Osmotic stress changes the expression and subcellular localization of the Batten disease protein CLN3.
 

Author(s): Amanda Getty, Attila D Kovács, Tímea Lengyel-Nelson, Andrew Cardillo, Caitlin Hof, Chun-Hung Chan, David A Pearce

Journal:

 

Juvenile CLN3 disease (formerly known as juvenile neuronal ceroid lipofuscinosis) is a fatal childhood neurodegenerative disorder caused by mutations in the CLN3 gene. CLN3 encodes a putative lysosomal transmembrane protein with unknown function. Previous cell culture studies using ...

Last Updated: 10 Jul 2013

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Batten Disease" returned 2 free, full-text review articles on human participants. First 3 results:

Neurobehavioral features and natural history of juvenile neuronal ceroid lipofuscinosis (Batten disease).
 

Author(s): Heather R Adams, Jonathan W Mink,

Journal: J. Child Neurol.. 2013 Sep;28(9):1128-36.

 

Juvenile neuronal ceroid lipofuscinosis is a childhood-onset neurodegenerative disease with prominent symptoms comprising a pediatric dementia syndrome: intellectual decline, mood and behavioral impairments, and loss of adaptive skills. We review the history of neurobehavioral features ...

Last Updated: 9 Sep 2013

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Cathepsin D deficiency and NCL/Batten disease: there's more to death than apoptosis.
 

Author(s): John J Shacka, Kevin A Roth

Journal: Autophagy. ;3(5):474-6.

 

Animal models of cathepsin D (CD) deficiency are characterized by a progressive and relentless neurodegenerative phenotype similar to that observed in Neuronal Ceroid Lipofuscinoses (NCL), a group of pediatric neurodegenerative diseases known collectively as Batten Disease. We have ...

Last Updated: 8 Aug 2007

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

There are currently no related results available in Genetic Testing Registry.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Neuronal Ceroid Lipofuscinosis and Associated Sleep Abnormalities
 

Status: Recruiting

Condition Summary: Neuronal Ceroid Lipofuscinosis; Batten's Disease

 

Last Updated: 17 Oct 2013

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A Phase 1/2 Open-Label Dose-Escalation Study to Evaluate Safety, Tolerability, Pharmacokinetics, and Efficacy of Intracerebroventricular BMN 190 in Patients With Late-Infantile Neuronal Ceroid Lipofuscinosis (CLN2) Disease
 

Status: Recruiting

Condition Summary: Jansky-Bielschowsky Disease; Batten Disease; Late-Infantile Neuronal Ceroid Lipofuscinosis Type 2; CLN2 Disease

 

Last Updated: 5 Nov 2014

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Genotype-Phenotype Correlations of Late Infantile Neuronal Ceroid Lipofuscinosis
 

Status: Recruiting

Condition Summary: Batten Disease; Late Infantile Neuronal Lipofuscinosis

 

Last Updated: 5 Sep 2013

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