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.

http://www.bdsra.org/

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.

http://www.helphayden.com

Last Updated: 15 Mar 2013

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General Support Organizations

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How do you compare to others with this condition?

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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

View Details

 

General Support Organizations

Not finding the support you need? Show 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 94 free, full-text research articles on human participants. First 3 results:

[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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Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy.
 

Author(s): Filippo Maria Santorelli, Barbara Garavaglia, Francesco Cardona, Nardo Nardocci, Bernardo Dalla Bernardina, Stefano Sartori, Agnese Suppiej, Enrico Bertini, Dianela Claps, Roberta Battini, Roberta Biancheri, Mirella Filocamo, Francesco Pezzini, Alessandro Simonati

Journal:

 

To review the descriptive epidemiological data on neuronal ceroid lipofuscinoses (NCLs) in Italy, identify the spectrum of mutations in the causative genes, and analyze possible genotype-phenotype relations.

Last Updated: 12 Feb 2013

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Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis.
 

Author(s): Katherine R Smith, Hans-Henrik M Dahl, Laura Canafoglia, Eva Andermann, John Damiano, Michela Morbin, Amalia C Bruni, Giorgio Giaccone, Patrick Cossette, Paul Saftig, Joachim Grötzinger, Michael Schwake, Frederick Andermann, John F Staropoli, Katherine B Sims, Sara E Mole, Silvana Franceschetti, Noreen A Alexander, Jonathan D Cooper, Harold A Chapman, Stirling Carpenter, Samuel F Berkovic, Melanie Bahlo

Journal: Hum. Mol. Genet.. 2013 Apr;22(7):1417-23.

 

Kufs disease, an adult-onset neuronal ceroid lipofuscinosis, is challenging to diagnose and genetically heterogeneous. Mutations in CLN6 were recently identified in recessive Kufs disease presenting as progressive myoclonus epilepsy (Type A), whereas the molecular basis of cases presenting ...

Last Updated: 15 Mar 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 0 free, full-text review articles on human participants.

 
 
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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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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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Safety and Efficacy Study of BMN190 for the Treatment of Patients With CLN2 Disease
 

Status: Recruiting

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

 

Last Updated: 21 Mar 2014

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