Ceroid Lipofuscinosis Neuronal 2

Common Name(s)

Ceroid Lipofuscinosis Neuronal 2

Ceroid lipofuscinosis, neuronal 2 (CLN2) / late infantile neuronal ceroid lipofuscinosis (LINCL) / Jansky-Bielschowsky / late infantile CLN2/TPP1 disorder is part of a group of progressive degenerative neurometabolic disorders known as the neuronal ceroid lipofuscinoses (NCLs). The NCLs are characterized by an abnormal accumulation of lipopigments, which are substances made up of fats and proteins within the brainĂ•s nerve cells, eyes, skin, muscle, and other tissues throughout the body. CLN2 causes nerve cells, found in the brain, retina, and central nervous system, to die.  Symptoms typically begin between ages 2 and 4. Early signs may include loss of muscle coordination (ataxia) and seizures that do not respond to drugs. This form progresses rapidly and ends in death between ages 8 and 12. The condition is caused by mutations in the CLN 2 gene which lead to deficient activity of the TPP1 enzyme.  
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Ceroid Lipofuscinosis Neuronal 2" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Ceroid Lipofuscinosis Neuronal 2" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

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 "Ceroid Lipofuscinosis Neuronal 2" returned 0 free, full-text research articles on human participants.

Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Ceroid Lipofuscinosis Neuronal 2" returned 0 free, full-text review articles on human participants.

 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

Safety and Efficacy Study of BMN190 for the Treatment of Patients With CLN2 Disease
 

Status: Recruiting

Condition Summary: Jansky-Bielschowsky Disease; Batten Disease; Late-Infantile Neuronal Ceroid Lipofuscinosis Type 2; CLN2 Disease

 

Last Updated: 21 Mar 2014

Go to URL
AAVRh.10 Administered to Children With Late Infantile Neuronal Ceroid Lipofuscinosis With Uncommon Genotypes or Moderate/Severe Impairment
 

Status: Recruiting

Condition Summary: Late Infantile Neuronal Ceroid Lipofuscinosis; Batten Disease

 

Last Updated: 5 Sep 2013

Go to URL
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 Lipofuscinosis

 

Last Updated: 5 Nov 2013

Go to URL