1. Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis. 2. Pathologically the ceroid -lipofuscin accumulates mainly in neurons and contains subunit C of the mitochondrial ATP synthase. 3. Neuronal ceroid lipofuscinosis ( NCL ) is a rare but serious disease that is limited to show Border Collies. 4. It is the most common form of a group of disorders called the neuronal ceroid lipofuscinoses ( NCLs ). 5. Neuronal ceroid lipofuscinoses ( NCLs ) are a family of diseases which are inherited in an autosomal recessive manner. 6. The study is focusing on a form called INCL ( infantile neuronal ceroid lipofuscinoses ) or Santavuori-Haltia disease. 7. In addition, Tibetan Terriers can carry the genetic disease canine neuronal ceroid lipofuscinosis, called Batten disease in humans. 8. Neuronal ceroid lipofuscinoses ( NCL ) represent a group of encephalopathies that occur in 1 in 12, 500 children. 9. Jansky Bielschowsky disease is also known as : late-infantile Batten disease, LINCL, or neuronal ceroid lipofuscinosis. 10. Neuronal ceroid lipofuscinosis is a group of diseases that cause blindness, loss of mental abilities, and loss of movement.
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