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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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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Pediatric Brain Foundation

Pediatric Brain Foundation's Mission is Three-fold: 1. Expedite scientific research to find treatments and cures for ALL of the more than 14 million children, in the U.S. alone, living with some form of neurological disorder 2. Provide families and health care professionals with up-to-date information and resources on the latest discoveries in pediatric neurology 3. Educate the public and public officials on the critical importance of funding pediatric neurological research

Last Updated: 22 Apr 2015

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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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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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Pediatric Brain Foundation

Pediatric Brain Foundation's Mission is Three-fold: 1. Expedite scientific research to find treatments and cures for ALL of the more than 14 million children, in the U.S. alone, living with some form of neurological disorder 2. Provide families and health care professionals with up-to-date information and resources on the latest discoveries in pediatric neurology 3. Educate the public and public officials on the critical importance of funding pediatric neurological research

http://www.pediatricbrainfoundation.org

Last Updated: 22 Apr 2015

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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 73 free, full-text research articles on human participants. First 3 results:

Comprehensive functional characterization of murine infantile Batten disease including Parkinson-like behavior and dopaminergic markers.
 

Author(s): Joshua T Dearborn, Steven K Harmon, Stephen C Fowler, Karen L O'Malley, George T Taylor, Mark S Sands, David F Wozniak

Journal:

 

Infantile neuronal ceroid lipofuscinosis (INCL, Infantile Batten disease) is a neurodegenerative lysosomal storage disease caused by a deficiency in palmitoyl protein thioesterase-1 (PPT1). The PPT1-deficient mouse (Cln1(-/-)) is a useful phenocopy of human INCL. Cln1(-/-) mice display ...

Last Updated: 5 Aug 2015

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Unbiased Cell-based Screening in a Neuronal Cell Model of Batten Disease Highlights an Interaction between Ca2+ Homeostasis, Autophagy, and CLN3 Protein Function.
 

Author(s): Uma Chandrachud, Mathew W Walker, Alexandra M Simas, Sasja Heetveld, Anton Petcherski, Madeleine Klein, Hyejin Oh, Pavlina Wolf, Wen-Ning Zhao, Stephanie Norton, Stephen J Haggarty, Emyr Lloyd-Evans, Susan L Cotman

Journal: J. Biol. Chem.. 2015 Jun;290(23):14361-80.

 

Abnormal accumulation of undigested macromolecules, often disease-specific, is a major feature of lysosomal and neurodegenerative disease and is frequently attributed to defective autophagy. The mechanistic underpinnings of the autophagy defects are the subject of intense research, ...

Last Updated: 6 Jun 2015

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Translational neurophysiology in sheep: measuring sleep and neurological dysfunction in CLN5 Batten disease affected sheep.
 

Author(s): Nicholas Perentos, Amadeu Q Martins, Thomas C Watson, Ullrich Bartsch, Nadia L Mitchell, David N Palmer, Matthew W Jones, A Jennifer Morton

Journal: Brain. 2015 Apr;138(Pt 4):862-74.

 

Creating valid mouse models of slowly progressing human neurological diseases is challenging, not least because the short lifespan of rodents confounds realistic modelling of disease time course. With their large brains and long lives, sheep offer significant advantages for translational ...

Last Updated: 24 Mar 2015

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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 1 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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Symptoms, Diagnosis, and Treatment

There are currently no related results available in Genetics Home Reference.

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

Safety Study of a Gene Transfer Vector (Rh.10) for Children With Late Infantile Neuronal Ceroid Lipofuscinosis
 

Status: Recruiting

Condition Summary: Batten Disease; Late-Infantile Neuronal Ceroid Lipofuscinosis

 

Last Updated: 19 Sep 2016

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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: 9 Dec 2015

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AAVRh.10 Administered to Children With Late Infantile Neuronal Ceroid Lipofuscinosis
 

Status: Recruiting

Condition Summary: Late Infantile Neuronal Ceroid Lipofuscinosis; Batten Disease

 

Last Updated: 3 May 2016

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