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

Exome sequencing is an efficient tool for variant late-infantile neuronal ceroid lipofuscinosis molecular diagnosis.
 

Author(s): Liliana Catherine Patiño, Rajani Battu, Oscar Ortega-Recalde, Jeyabalan Nallathambi, Venkata Ramana Anandula, Umashankar Renukaradhya, Paul Laissue

Journal:

 

The neuronal ceroid-lipofuscinoses (NCL) is a group of neurodegenerative disorders characterized by epilepsy, visual failure, progressive mental and motor deterioration, myoclonus, dementia and reduced life expectancy. Classically, NCL-affected individuals have been classified into ...

Last Updated: 22 Oct 2014

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Oral cysteamine bitartrate and N-acetylcysteine for patients with infantile neuronal ceroid lipofuscinosis: a pilot study.
 

Author(s): Sondra W Levin, Eva H Baker, Wadih M Zein, Zhongjian Zhang, Zenaide M N Quezado, Ning Miao, Andrea Gropman, Kurt J Griffin, Simona Bianconi, Goutam Chandra, Omar I Khan, Rafael C Caruso, Aiyi Liu, Anil B Mukherjee

Journal: Lancet Neurol. 2014 Aug;13(8):777-87.

 

Infantile neuronal ceroid lipofuscinosis is a devastating neurodegenerative lysosomal storage disease caused by mutations in the gene (CLN1 or PPT1) encoding palmitoyl-protein thioesterase-1 (PPT1). We have previously reported that phosphocysteamine and N-acetylcysteine mediate ceroid ...

Last Updated: 17 Jul 2014

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Caenorhabditis elegans dnj-14, the orthologue of the DNAJC5 gene mutated in adult onset neuronal ceroid lipofuscinosis, provides a new platform for neuroprotective drug screening and identifies a SIR-2.1-independent action of resveratrol.
 

Author(s): Sudhanva S Kashyap, James R Johnson, Hannah V McCue, Xi Chen, Matthew J Edmonds, Mimieveshiofuo Ayala, Margaret E Graham, Robert C Jenn, Jeff W Barclay, Robert D Burgoyne, Alan Morgan

Journal: Hum. Mol. Genet.. 2014 Nov;23(22):5916-27.

 

Adult onset neuronal lipofuscinosis (ANCL) is a human neurodegenerative disorder characterized by progressive neuronal dysfunction and premature death. Recently, the mutations that cause ANCL were mapped to the DNAJC5 gene, which encodes cysteine string protein alpha. We show here ...

Last Updated: 22 Oct 2014

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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 9 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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Pathogenesis and therapies for infantile neuronal ceroid lipofuscinosis (infantile CLN1 disease).
 

Author(s): Jacqueline A Hawkins-Salsbury, Jonathan D Cooper, Mark S Sands

Journal: Biochim. Biophys. Acta. 2013 Nov;1832(11):1906-9.

 

The neuronal ceroid lipofuscinoses (NCL, Batten disease) are a group of inherited neurodegenerative diseases. Infantile neuronal ceroid lipofuscinosis (INCL, infantile Batten disease, or infantile CLN1 disease) is caused by a deficiency in the soluble lysosomal enzyme palmitoyl protein ...

Last Updated: 12 Aug 2013

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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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Clinical and Neuropsychological Investigations in Batten Disease
 

Status: Recruiting

Condition Summary: Neuronal Ceroid Lipofuscinosis

 

Last Updated: 28 May 2015

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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: 20 Apr 2015

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