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

Retinal function in patients with the neuronal ceroid lipofuscinosis phenotype.
 

Author(s): Elizabeth Maria Aparecida Barasnevicius Quagliato, Daniel Martins Rocha, Paula Yuri Sacai, Sung Song Watanabe, Solange Rios Salomão, Adriana Berezovsky

Journal: Arq Bras Oftalmol. ;80(4):215-219.

 

To analyze the clinical features, visual acuity, and full-field electroretinogram (ERG) findings of 15 patients with the neuronal ceroid lipofuscinosis (NCL) phenotype and to establish the role of ERG testing in NCL diagnosis.

Last Updated: 31 Dec 1969

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Fingolimod and Teriflunomide Attenuate Neurodegeneration in Mouse Models of Neuronal Ceroid Lipofuscinosis.
 

Author(s): Janos Groh, Kristina Berve, Rudolf Martini

Journal: Mol. Ther.. 2017 Aug;25(8):1889-1899.

 

CLN diseases are rare lysosomal storage diseases characterized by progressive axonal degeneration and neuron loss in the CNS, manifesting in disability, blindness, and premature death. We have previously demonstrated that, in animal models of infantile and juvenile forms of CLN disease ...

Last Updated: 31 Dec 1969

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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 04;9(385):.

 

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

Last Updated: 31 Dec 1969

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

Safety and potential efficacy of gemfibrozil as a supportive treatment for children with late infantile neuronal ceroid lipofuscinosis and other lipid storage disorders.
 

Author(s): Kyeongsoon Kim, Hynda K Kleinman, Hahn-Jun Lee, Kalipada Pahan

Journal:

 

Neuronal Ceroid Lipofuscinosis (NCL), also known as Batten disease, is a group of genetically distinct lysosomal disorders that mainly affect the central nervous system, resulting in progressive motor and cognitive decline primarily in children. Multiple distinct genes involved in ...

Last Updated: 31 Dec 1969

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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: 31 Dec 1969

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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: 31 Dec 1969

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Investigations of Juvenile Neuronal Ceroid Lipofuscinosis
 

Status: Recruiting

Condition Summary: Juvenile Neuronal Ceroid Lipofuscinosis (CLN3, Batten Disease)

 

Last Updated: 24 Apr 2018

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Clinical and Neuropsychological Investigations in Batten Disease
 

Status: Recruiting

Condition Summary: Neuronal Ceroid Lipofuscinosis

 

Last Updated: 24 Oct 2017

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Natural History of Neuronal Ceroid Lipofuscinosis, Batten's CLN6 Diseae
 

Status: Recruiting

Condition Summary: Batten Disease; CLN6

 

Last Updated: 15 Sep 2017

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