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 ({44:Mole et al., 2005}). 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 ({44:Mole et al., 2005}). For a general phenotypic description and a discussion of genetic heterogeneity of CLN, see CLN1 ({256730}).
 

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

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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Remote Assessment of Cognitive Function in Juvenile Neuronal Ceroid Lipofuscinosis (Batten disease): A Pilot Study of Feasibility and Reliability.
 

Author(s): Shayne N Ragbeer, Erika F Augustine, Jonathan W Mink, Alyssa R Thatcher, Amy E Vierhile, Heather R Adams

Journal: J. Child Neurol.. 2016 Mar;31(4):481-7.

 

Remote technology provides an opportunity to extend the reach of clinical care and research for pediatric rare disease. This pilot study evaluated the feasibility and reliability of neuropsychological evaluation, using remote audiovisual technology, in the assessment of children with ...

Last Updated: 10 Feb 2016

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OPTICAL COHERENCE TOMOGRAPHY IN JUVENILE NEURONAL CEROID LIPOFUSCINOSIS.
 

Author(s): Michael S Hansen, Marianne N Hove, Hanne Jensen, Michael Larsen

Journal: Retin Cases Brief Rep. 2016 ;10(2):137-9.

 

To report optical coherence tomography findings obtained in two patients with juvenile neuronal ceroid lipofuscinosis.

Last Updated: 22 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 "Juvenile neuronal ceroid lipofuscinosis" returned 4 free, full-text review articles on human participants. First 3 results:

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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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 and education.
 

Author(s): Stephen von Tetzchner, Per Fosse, Bengt Elmerskog

Journal: Biochim. Biophys. Acta. 2013 Nov;1832(11):1894-905.

 

Juvenile neuronal ceroid lipofuscinosis (JNCL) is characterized by severe visual impairment with onset around age 4-8 years, and a developmental course that includes blindness, epilepsy, speech problems, dementia, motor coordination problems, and emotional reactions. There is presently ...

Last Updated: 12 Aug 2013

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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: 18 Nov 2017

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AAVRh.10 Administered to Children With Late Infantile Neuronal Ceroid Lipofuscinosis
 

Status: Recruiting

Condition Summary: Late Infantile Neuronal Ceroid Lipofuscinosis; Batten Disease

 

Last Updated: 23 May 2017

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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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