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Neuronal ceroid lipofuscinosis 3 (CLN3-NCL) is a rare condition that affects the nervous system. Signs and symptoms generally develop between age 4 and 8 years, although later onset cases have been reported. Affected people may experience rapidly progressive vision loss, developmental regression (loss of acquired milestones), cognitive decline, heart problems, seizures, speech disturbances, behavioral problems (including aggression), and movement abnormalities. Life expectancy generally ranges from the late teens to the 30's. CLN3-NCL is caused by changes (mutations) in the CLN3 gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms.
Source: GARD Last updated on 05-01-20
Neuronal ceroid lipofuscinosis 3 (CLN3-NCL) is caused by changes (mutations) in the CLN3 gene. This gene provides instructions for making a protein whose function is unknown. However, it appears to be important for the normal function of cell structures call lysosomes.
Although researchers do not completely understand how mutations in the CLN3 gene lead to the signs and symptoms of CLN3-NCL, they appear to disrupt the function of lysosomes (structures in the cell that normally digest and recycle different substances). When the lysosomes don't work properly, lipopigments (materials made of fats and proteins) build up in cells of the brain and the eye as well as in skin, muscle, and many other tissues. Researchers believe that this build up plays a key role in the development of the many features of CLN3-NCL.
Last updated on 05-01-20
Carbamazepine and phenytoin may increase seizure activity and myoclonus (involuntary muscle jerks) in people with neuronal ceroid lipofuscinosis 3 (CLN3-NCL) and other types of neuronal ceroid lipofuscinoses (NCLs). In some cases, these medications have been associated with worsening of symptoms.
In one study of people with CLN3-NCL, valproic acid and clonazepam were noted to have severe side effects. More specifically, 50 percent of people receiving valproic acid had sleep disturbances or excessive sedation. Clonazepam seemed to stimulate salivation and respiratory secretions, increasing the risk of pneumonia.
Last updated on 05-01-20
The Batten Disease Support and Research Association has a list of Batten Disease Centers of Excellence. These centers have a team of professionals who are knowledgeable about, and have experience treating, all forms of Batten disease.
Last updated on 04-27-20
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