Adrenoleukodystrophy is one of the genetic neurodegenerative disorders. These disorders are grouped into four categories: sphingolipidoses, neuronal ceroid lipofuscinoses, adrenoleukodystrophy (like Lorenzo, whose story is portrayed in the movie "Lorenzo's Oil"), and sialidosis. 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.
Adrenoleukodystrophy comes in three types (classic, neonatal, and adrenomyeloneuropathy). In these disorders, the myelin, also known as the white matter, is lost from the nerve cells. The myelin is supposed to be the insulation around the nerve that allows it to transmit electrical impulses properly. Lorenzo's Oil, a dietary supplement, is the most famous treatment, but by no means the only option.
Adrenoleukodystrophy is one of the neurodegenerative diseases of childhood for which bone marrow transplantation is most successful. In addition, medications such as the protease inhibitors used in AIDS have had some benefit (Neurochem Res, Mar 1997). Gammaglobulin has also been used to temporarily improve neurological symptoms (including vision and hearing loss) in adrenoleukodystrophy (Brain Dev, Mar 1996).
The most exciting development is the possibility of actually transplanting myelin-producing cells. Simultaneous collaborative research at Cambridge, Madison (Wisconsin), Paris, and Yale is pushing this work forward at amazing speed. Augusto Odone, Lorenzo's father, reports that "indeed this work is now so advanced that an increasing number of neurologists and clinicians on both sides of the Atlantic believe it will soon be possible to conduct transplantation trials on myelin disease sufferers."
Anyone whose child has a myelin disease (and perhaps anyone with any neurodegenerative disease) should contact Augusto Odone. His Myelin Project is an inspiring example of what can happen when parents, scientists, and the pharmaceutical industry work together. The Myelin Project is located at Suite 950, 1747 Pennsylvania Ave, N.W. Washington, DC 20006, USA. Their phone number is (202) 452-8994.