Neuronal Ceroid Lipofuscinoses

Dr. Greene's Answer

There are four categories of genetic neurodegenerative disorders: sphingolipidoses, neuronal ceroid lipofuscinoses, adrenoleukodystrophy, and sialidosis. The hallmark of this group of disorders is a slow but progressive deterioration of brain function. These may be distinguished from one another based on head CT, head MRI, nerve conduction velocities, visual evoked potentials, auditory evoked potentials, electroretinography, and to a lesser extent, EEG’s. When needed, skin, conjunctival, and nerve biopsies can help pinpoint the diagnosis. There are now also blood tests and DNA tests that can help diagnose these conditions.

The neuronal ceroid lipofuscinoses consist of four inherited disorders: infantile type (Haltia-Santavuori), late infantile (Jansky-Bielschowsky), and juvenile type (Spielmeyer-Vogt), and adult type (Kufs or Parry disease). Recetly, scientists have looked at reclassifying these disorders on the basis of newer molecular findings, They characterized by the storage of a fluorescent substance within the nerve cells and are associated with variable but progressive symptoms. This group of illnesses is also sometimes called Batten disease. Bone marrow transplant has been successful in treating this group of illnesses (Cell Transplant, Jul 1995). In addition, carnitine, a dietary supplement, has been shown to slow the progress of these diseases (J Neurosci Res, Oct 1997). Researchers are currently assessing the potential benefits of chaperone therapy, enzyme replacement therapy, gene therapy, and stem cell therapy.