Neuronal Ceroid Lipofuscinosis

Common Name(s)

Neuronal Ceroid Lipofuscinosis

Description for this condition is not yet available.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Neuronal Ceroid Lipofuscinosis" for support, advocacy or research.

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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 Jan 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 "Neuronal Ceroid Lipofuscinosis" for support, advocacy or research.

Logo
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 Jan 2013

View Details
Logo
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 "Neuronal Ceroid Lipofuscinosis" returned 107 free, full-text research articles on human participants. First 3 results:

Neuronal ceroid lipofuscinosis with early-onset dementia and periventricular leukoencephalopathy in which a skin biopsy was diagnostically useful.
 

Author(s): Takeshi Ueda, Eri Narushima, Eri Ishida, Ichiro Akiguchi

Journal: Intern. Med.. 2013 ;52(19):2271-4.

 

Neuronal ceroid lipofuscinosis (NCL) is a rare disease with onset typically during childhood; however, that developing during adulthood can lead to early-onset dementia. We report a 54-year-old man whose onset coincided with speech impairment, amnesia and dyscalculia. On brain MRI, ...

Last Updated: 3 Oct 2013

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Methodology of clinical research in rare diseases: development of a research program in juvenile neuronal ceroid lipofuscinosis (JNCL) via creation of a patient registry and collaboration with patient advocates.
 

Author(s): Elisabeth A de Blieck, Erika F Augustine, Frederick J Marshall, Heather Adams, Jennifer Cialone, Leon Dure, Jennifer M Kwon, Nicole Newhouse, Katherine Rose, Paul G Rothberg, Amy Vierhile, Jonathan W Mink,

Journal: Contemp Clin Trials. 2013 Jul;35(2):48-54.

 

Juvenile neuronal ceroid lipofuscinosis (JNCL; Batten disease) is a rare, inherited, fatal lysosomal storage childhood disorder. True for many rare diseases, there are no treatments that impact the course of JNCL. The University of Rochester Batten Center's (URBC) mission is to find ...

Last Updated: 5 Jul 2013

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The role of nonsense-mediated decay in neuronal ceroid lipofuscinosis.
 

Author(s): Jake N Miller, Chun-Hung Chan, David A Pearce

Journal: Hum. Mol. Genet.. 2013 Jul;22(13):2723-34.

 

Neuronal ceroid lipofuscinosis (NCL), commonly referred to as Batten disease, is a group of autosomal recessive neurodegenerative diseases of childhood characterized by seizures, blindness, motor and cognitive decline and premature death. Currently, there are over 400 known mutations ...

Last Updated: 7 Jun 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 "Neuronal Ceroid Lipofuscinosis" returned 3 free, full-text review articles on human participants. First 3 results:

Interactions of the proteins of neuronal ceroid lipofuscinosis: clues to function.
 

Author(s): Amanda L Getty, David A Pearce

Journal: Cell. Mol. Life Sci.. 2011 Feb;68(3):453-74.

 

Neuronal ceroid lipofuscinoses (NCL) are caused by mutations in eight different genes, are characterized by lysosomal accumulation of autofluorescent storage material, and result in a disease that causes degeneration of the central nervous system (CNS). Although functions are defined ...

Last Updated: 14 Jan 2011

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Juvenile neuronal ceroid lipofuscinosis (JNCL) and the eye.
 

Author(s): Sara Bozorg, Denia Ramirez-Montealegre, Mina Chung, David A Pearce

Journal: Surv Ophthalmol. ;54(4):463-71.

 

Juvenile neuronal ceroid lipofuscinoses, or Batten disease, is the most common type of NCL in the United States and Europe. This devastating disorder presents with vision failure and progresses to include seizures, motor dysfunction, and dementia. Death usually occurs in the third ...

Last Updated: 22 Jun 2009

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Progress towards understanding disease mechanisms in small vertebrate models of neuronal ceroid lipofuscinosis.
 

Author(s): Jonathan D Cooper, Claire Russell, Hannah M Mitchison

Journal: Biochim. Biophys. Acta. 2006 Oct;1762(10):873-89.

 

Model systems provide an invaluable tool for investigating the molecular mechanisms underlying the NCLs, devastating neurodegenerative disorders that affect the relatively inaccessible tissues of the central nervous system. These models have enabled the assessment of behavioural, ...

Last Updated: 27 Oct 2006

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

 
 
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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: 19 Aug 2014

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AAVRh.10 Administered to Children With Late Infantile Neuronal Ceroid Lipofuscinosis With Uncommon Genotypes or Moderate/Severe Impairment
 

Status: Recruiting

Condition Summary: Late Infantile Neuronal Ceroid Lipofuscinosis; Batten Disease

 

Last Updated: 5 Sep 2013

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