Inheritance and Diagnosis
Batten disease is inherited in an autosomal recessive pattern. The mutation causes the buildup of lipofuscins in the body's tissues. These substances consist of fats and proteins and form certain distinctive deposits that cause the symptoms and can be seen under an electron microscope. The diagnosis of Batten disease is based on the presence of these deposits in skin samples as well as other criteria. Eight genes have now been identified that cause different types of Batten disease in children or adults, more having yet to be identified. Two of these genes encode enzymes. The function of most of these genes is still unknown. The identification of these genes opens up the possibility of gene replacement therapy or other gene-related treatments. Batten disease is very rare and occurs in an estimated 2 to 4 out of every 100,000 births in the United States.
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—Henry David Thoreau (1817–1862)