Definition:
Batten-Spielmeyer-Vogt/Juvenile NCL/CLN3 disorder is part of a group of progressive degenerative neurometabolic disorders known as neuronal ceroid lipofuscinoses (NCLs). NCLs are characterized by an abnormal accumulation of lipopigaments, which are substances combined from fats and proteins within the brain’s nerve cells, eyes, skin, muscle, and within other tissues throughout the body.

Skin biopsy in these patients shows characteristic fingerprint inclusions when examined under the electron microscope. This disorder causes nerve cells, found in the brain, retina, and in the central nervous system, to die.

Research has located a mutated gene responsible for Batten-Spielmeyer-Vogt/Juvenile NCL/CLN3, although the protein that the gene codes has not been identified.

Batten Disease is the most common form of the NCLs. It is estimated that the NCLs affect two to four of every 100,000 live births in the United States.

Symptoms:
Symptoms of Batten-Spielmeyer-Vogt/Juvenile NCL/CLN3 disorder begin between five and 10 years of age, when visual problems or seizures begin to appear. Personality and behavior changes, as well as clumsiness and delayed learning, may also occur in children affected with this disorder. As the disorder progresses, mental impairment and vision worsen, and motor skills decline. In its final stages, the affected individual becomes blind, mentally retarded, and bedridden.

Inheritance Pattern:
Batten-Spielmeyer-Vogt/Juvenile NCL/CLN3 disorder is an autosomal recessive disorder.

Life Expectancy:
Life Expectancy for Batten-Spielmeyer-Vogt/Juvenile NCL/CLN3 disorder is between the late teens and early 20s.

Diagnosis and Testing:
A urine test is utilized to help diagnose Batten-Spielmeyer-Vogt/Juvenile NCL/CLN3. The test measures increased levels of a chemical called dolichol. A biopsy of a tissue or skin sample to look for particular cellular deposits unique to NCL disorders is often performed to confirm a diagnosis. Other diagnostic tests include electroencephalogram, or EEG, to locate seizure activity in the brain, eye examination for optical complications characteristic of NCL disorders, and brain scan to search for changes in the brain’s appearance.

As the mutation in the gene for Batten-Spielmeyer-Vogt/Juvenile NCL/CLN3 disorder has been identified, DNA analysis can confirm a diagnosis in families wherein there are known carriers. Prenatal DNA analysis is also available for families affected by this form of Batten Disease.

Treatment:
There is no cure for Batten-Spielmeyer-Vogt/Juvenile NCL/CLN3 disorder. Treatment is limited to reducing or controlling the symptoms of this disorder. Neurologists are able to help control seizures or nervous system complications. An ophthalmologist can monitor vision loss, and physical and occupational therapists can assist the affected individual to maintain muscle movement and reduce muscle discomfort.

Patient Groups:
Batten Disease Support and Research Association
166 Humphries Dr.
Reynoldsburg, OH 43068
www.bdsra.org
tel: (800) 448-4570
Lance Johnston, Executive Director
bdsral@bdsra.org