Juvenile neuronal ceroid lipofuscinosis

Common Name(s)

Juvenile neuronal ceroid lipofuscinosis

The neuronal ceroid lipofuscinoses (NCL; CLN) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by the intracellular accumulation of autofluorescent lipopigment storage material in different patterns ultrastructurally. The clinical course includes progressive dementia, seizures, and progressive visual failure ({43:Mole et al., 2005}). For a general phenotypic description and a discussion of genetic heterogeneity of CLN, see CLN1 ({256730}). The hallmark of CLN3 is the ultrastructural pattern of lipopigment with a 'fingerprint' profile, which can have 3 different appearances: pure within a lysosomal residual body; in conjunction with curvilinear or rectilinear profiles; and as a small component within large membrane-bound lysosomal vacuoles. The combination of fingerprint profiles within lysosomal vacuoles is a regular feature of blood lymphocytes from patients with CLN3 ({43:Mole et al., 2005}).
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Juvenile neuronal ceroid lipofuscinosis" for support, advocacy or research.

Isabella's Aviary Alliance, LLC

Isabella’s Aviary Alliance, LLC actively demonstrates, through Isabella’s passionate and loving care in breeding and raising baby parrots for other special needs children, the possibility for two hearts—bird and child—coming together and connecting in a way which infinitely brightens the lives of both.

Last Updated: 2 Aug 2013

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Juvenile neuronal ceroid lipofuscinosis" for support, advocacy or research.

Isabella's Aviary Alliance, LLC

Isabella’s Aviary Alliance, LLC actively demonstrates, through Isabella’s passionate and loving care in breeding and raising baby parrots for other special needs children, the possibility for two hearts—bird and child—coming together and connecting in a way which infinitely brightens the lives of both.

http://www.isabellasaviary.com

Last Updated: 2 Aug 2013

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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 "Juvenile neuronal ceroid lipofuscinosis" returned 15 free, full-text research articles on human participants. First 3 results:

Methodology of clinical research in rare diseases: development of a research program in juvenile neuronal ceroid lipofuscinosis (JNCL) via creation of a patient registry and collaboration with patient advocates.
 

Author(s): Elisabeth A de Blieck, Erika F Augustine, Frederick J Marshall, Heather Adams, Jennifer Cialone, Leon Dure, Jennifer M Kwon, Nicole Newhouse, Katherine Rose, Paul G Rothberg, Amy Vierhile, Jonathan W Mink,

Journal: Contemp Clin Trials. 2013 Jul;35(2):48-54.

 

Juvenile neuronal ceroid lipofuscinosis (JNCL; Batten disease) is a rare, inherited, fatal lysosomal storage childhood disorder. True for many rare diseases, there are no treatments that impact the course of JNCL. The University of Rochester Batten Center's (URBC) mission is to find ...

Last Updated: 5 Jul 2013

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Quantifying physical decline in juvenile neuronal ceroid lipofuscinosis (Batten disease).
 

Author(s): J M Kwon, H Adams, P G Rothberg, E F Augustine, F J Marshall, E A Deblieck, A Vierhile, C A Beck, N J Newhouse, J Cialone, E Levy, D Ramirez-Montealegre, L S Dure, K R Rose, J W Mink

Journal: Neurology. 2011 Nov;77(20):1801-7.

 

To use the Unified Batten Disease Rating Scale (UBDRS) to measure the rate of decline in physical and functional capability domains in patients with juvenile neuronal ceroid lipofuscinosis (JNCL) or Batten disease, a neurodegenerative lysosomal storage disorder. We have evaluated ...

Last Updated: 15 Nov 2011

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Parent-reported benefits of flupirtine in juvenile neuronal ceroid lipofuscinosis (Batten disease; CLN3) are not supported by quantitative data.
 

Author(s): Jennifer Cialone, Erika F Augustine, Nicole Newhouse, Heather Adams, Amy Vierhile, Frederick J Marshall, Elisabeth A de Blieck, Jennifer Kwon, Paul G Rothberg, Jonathan W Mink

Journal: J. Inherit. Metab. Dis.. 2011 Oct;34(5):1075-81.

 

Juvenile neuronal ceroid lipofuscinosis (JNCL; CLN3 disease; Batten disease) is an autosomal recessive neurodegenerative disease of childhood that typically presents at school age with vision loss followed by progressive cognitive decline, motor dysfunction, seizures, and behavior ...

Last Updated: 15 Sep 2011

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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 "Juvenile neuronal ceroid lipofuscinosis" returned 2 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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Juvenile neuronal ceroid lipofuscinosis (JNCL) and the eye.
 

Author(s): Sara Bozorg, Denia Ramirez-Montealegre, Mina Chung, David A Pearce

Journal: Surv Ophthalmol. ;54(4):463-71.

 

Juvenile neuronal ceroid lipofuscinoses, or Batten disease, is the most common type of NCL in the United States and Europe. This devastating disorder presents with vision failure and progresses to include seizures, motor dysfunction, and dementia. Death usually occurs in the third ...

Last Updated: 22 Jun 2009

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Cellcept for Treatment of Juvenile Neuronal Ceroid Lipofuscinosis
 

Status: Recruiting

Condition Summary: Juvenile Neuronal Ceroid Lipofuscinosis

 

Last Updated: 7 May 2014

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Genotype-Phenotype Correlations of Late Infantile Neuronal Ceroid Lipofuscinosis
 

Status: Recruiting

Condition Summary: Batten Disease; Late Infantile Neuronal Lipofuscinosis

 

Last Updated: 5 Sep 2013

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UCB Transplant of Inherited Metabolic Diseases With Administration of Intrathecal UCB Derived Oligodendrocyte-Like Cells
 

Status: Recruiting

Condition Summary: Adrenoleukodystrophy; Batten Disease; Mucopolysaccharidosis II; Leukodystrophy, Globoid Cell; Leukodystrophy, Metachromatic; Neimann Pick Disease; Pelizaeus-Merzbacher Disease; Sandhoff Disease; Tay-Sachs Disease; Brain Diseases, Metabolic, Inborn

 

Last Updated: 6 Oct 2014

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