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

Extraneuronal pathology in a canine model of CLN2 neuronal ceroid lipofuscinosis after intracerebroventricular gene therapy that delays neurological disease progression.
 

Author(s): M L Katz, G C Johnson, S B Leach, B G Williamson, J R Coates, R E H Whiting, D P Vansteenkiste, M S Whitney

Journal: Gene Ther.. 2017 Apr;24(4):215-223.

 

CLN2 neuronal ceroid lipofuscinosis is a hereditary lysosomal storage disease with primarily neurological signs that results from mutations in TPP1, which encodes the lysosomal enzyme tripeptidyl peptidase-1 (TPP1). Studies using a canine model for this disorder demonstrated that ...

Last Updated: 12 Jan 2017

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Diagnosis and misdiagnosis of adult neuronal ceroid lipofuscinosis (Kufs disease).
 

Author(s): Samuel F Berkovic, John F Staropoli, Stirling Carpenter, Karen L Oliver, Stanislav Kmoch, Glenn W Anderson, John A Damiano, Michael S Hildebrand, Katherine B Sims, Susan L Cotman, Melanie Bahlo, Katherine R Smith, Maxime Cadieux-Dion, Patrick Cossette, Ivana Jedličková, Anna Přistoupilová, Sara E Mole,

Journal: Neurology. 2016 Aug;87(6):579-84.

 

To critically re-evaluate cases diagnosed as adult neuronal ceroid lipofuscinosis (ANCL) in order to aid clinicopathologic diagnosis as a route to further gene discovery.

Last Updated: 9 Aug 2016

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Neuronal ceroid lipofuscinosis with DNAJC5/CSPα mutation has PPT1 pathology and exhibit aberrant protein palmitoylation.
 

Author(s): Michael X Henderson, Gregory S Wirak, Yong-Quan Zhang, Feng Dai, Stephen D Ginsberg, Natalia Dolzhanskaya, John F Staropoli, Peter C G Nijssen, TuKiet T Lam, Amy F Roth, Nicholas G Davis, Glyn Dawson, Milen Velinov, Sreeganga S Chandra

Journal: Acta Neuropathol.. 2016 Apr;131(4):621-37.

 

Neuronal ceroid lipofuscinoses (NCL) are a group of inherited neurodegenerative disorders with lysosomal pathology (CLN1-14). Recently, mutations in the DNAJC5/CLN4 gene, which encodes the presynaptic co-chaperone CSPα were shown to cause autosomal-dominant NCL. Although 14 NCL genes ...

Last Updated: 14 Mar 2016

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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 11 free, full-text review articles on human participants. First 3 results:

Using the social amoeba Dictyostelium to study the functions of proteins linked to neuronal ceroid lipofuscinosis.
 

Author(s): Robert J Huber

Journal:

 

Neuronal ceroid lipofuscinosis (NCL), also known as Batten disease, is a debilitating neurological disorder that affects both children and adults. Thirteen genetically distinct genes have been identified that when mutated, result in abnormal lysosomal function and an excessive accumulation ...

Last Updated: 24 Nov 2016

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Moving towards effective therapeutic strategies for Neuronal Ceroid Lipofuscinosis.
 

Author(s): Ryan D Geraets, Seung yon Koh, Michelle L Hastings, Tammy Kielian, David A Pearce, Jill M Weimer

Journal:

 

The Neuronal Ceroid Lipofuscinoses (NCLs) are a family of autosomal recessive neurodegenerative disorders that annually affect 1:100,000 live births worldwide. This family of diseases results from mutations in one of 14 different genes that share common clinical and pathological etiologies. ...

Last Updated: 16 Apr 2016

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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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Clinical Trial Information This information is provided by ClinicalTrials.gov

Genotype-Phenotype Correlations of Late Infantile Neuronal Ceroid Lipofuscinosis
 

Status: Recruiting

Condition Summary: Batten Disease; Late Infantile Neuronal Ceroid Lipofuscinosis

 

Last Updated: 23 May 2017

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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: 8 May 2017

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Clinical and Neuropsychological Investigations in Batten Disease
 

Status: Recruiting

Condition Summary: Neuronal Ceroid Lipofuscinosis

 

Last Updated: 26 Aug 2016

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