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.

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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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.

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

View Details
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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 "Neuronal Ceroid Lipofuscinosis" returned 109 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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[Cardiac involvement in neuronal ceroid lipofuscinosis].
 

Author(s): Małgorzata Szwoch, Dagmara Wojtowicz, Karolina Dorniak, Ewa Walczak, Grzegorz Raczak, Anna Fidziańska

Journal: Kardiol Pol. 2013 ;71(8):855-7.

 

We present a case of a 58-year-old female with neuropsychiatric symptoms, followed by recurrent episodes of atrial flagellation and symptoms of heart failure. Based on intraoperative myocardial biopsy, neuronal ceroid lipofuscinosis was diagnosed.

Last Updated: 19 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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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 5 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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Neuronal ceroid lipofuscinosis: impact of recent genetic advances and expansion of the clinicopathologic spectrum.
 

Author(s): Susan L Cotman, Amel Karaa, John F Staropoli, Katherine B Sims

Journal: Curr Neurol Neurosci Rep. 2013 Aug;13(8):366.

 

Neuronal ceroid lipofuscinosis (NCL), first clinically described in 1826 and pathologically defined in the 1960s, refers to a group of disorders mostly diagnosed in the childhood years that involve the accumulation of lysosomal storage material with characteristic ultrastructure and ...

Last Updated: 18 Jun 2013

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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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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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Cellcept for Treatment of Juvenile Neuronal Ceroid Lipofuscinosis
 

Status: Recruiting

Condition Summary: Juvenile Neuronal Ceroid Lipofuscinosis

 

Last Updated: 7 May 2014

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