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

Individuals with progranulin haploinsufficiency exhibit features of neuronal ceroid lipofuscinosis.
 

Author(s): Michael E Ward, Robert Chen, Hsin-Yi Huang, Connor Ludwig, Maria Telpoukhovskaia, Ali Taubes, Helene Boudin, Sakura S Minami, Meredith Reichert, Philipp Albrecht, Jeffrey M Gelfand, Andres Cruz-Herranz, Christian Cordano, Marcel V Alavi, Shannon Leslie, William W Seeley, Bruce L Miller, Eileen Bigio, Marek-Marsel Mesulam, Matthew S Bogyo, Ian R Mackenzie, John F Staropoli, Susan L Cotman, Eric J Huang, Li Gan, Ari J Green

Journal: Sci Transl Med. 2017 Apr;9(385):.

 

Heterozygous mutations in the GRN gene lead to progranulin (PGRN) haploinsufficiency and cause frontotemporal dementia (FTD), a neurodegenerative syndrome of older adults. Homozygous GRN mutations, on the other hand, lead to complete PGRN loss and cause neuronal ceroid lipofuscinosis ...

Last Updated: 13 Apr 2017

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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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Self-Complementary AAV9 Gene Delivery Partially Corrects Pathology Associated with Juvenile Neuronal Ceroid Lipofuscinosis (CLN3).
 

Author(s): Megan E Bosch, Amy Aldrich, Rachel Fallet, Jessica Odvody, Maria Burkovetskaya, Kaitlyn Schuberth, Julie A Fitzgerald, Kevin D Foust, Tammy Kielian

Journal: J. Neurosci.. 2016 Sep;36(37):9669-82.

 

Juvenile neuronal ceroid lipofuscinosis (JNCL) is a fatal lysosomal storage disease caused by autosomal-recessive mutations in CLN3 for which no treatment exists. Symptoms appear between 5 and 10 years of age, beginning with blindness and seizures, followed by progressive cognitive ...

Last Updated: 16 Sep 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 12 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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Vision loss in juvenile neuronal ceroid lipofuscinosis (CLN3 disease).
 

Author(s): Madhu M Ouseph, Mark E Kleinman, Qing Jun Wang

Journal: Ann. N. Y. Acad. Sci.. 2016 May;1371(1):55-67.

 

Juvenile neuronal ceroid lipofuscinosis (JNCL; also known as CLN3 disease) is a devastating neurodegenerative lysosomal storage disorder and the most common form of Batten disease. Progressive visual and neurological symptoms lead to mortality in patients by the third decade. Although ...

Last Updated: 15 Jun 2016

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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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