May 18, 2001

Partners HealthCare recently established a new multidisciplinary specialty clinic for the diagnosis and treatment of a family of inherited metabolic disorders called leukodystrophies. This clinic, which is based at the MGH, is the only one of its kind in the Northeast. It offers a multidisciplinary approach to treating patients who suffer from disabling — and sometimes fatal — neurological disorders.

According to Gilmore O'Neill, MD, the clinic's director, leukodystrophy — which mostly is diagnosed in children — is a blanket term for inherited conditions that cause abnormalities in the white matter of the brain. White matter carries signals between different nerve cells. Symptoms of these conditions include progressive leg stiffness, urinary incontinence, behavioral and psychiatric difficulties and some cognitive problems, such as memory disturbances, difficulty concentrating and dementia. As the disease progresses, symptoms become more severe, sometimes leading to blindness, hearing loss and paralysis.

Adrenoleukodystrophy (ALD), the most common of the leukodystrophies, was made famous in the 1992 film "Lorenzo's Oil," starring Nick Nolte and Susan Sarandon. The actors portrayed the real-life story of Augusto and Michaela Odone as they desperately sought a cure for their son, Lorenzo, who was diagnosed with ALD at the age of 5.

O'Neill, who researches the molecular basis of ALD, established the clinic to help clinicians recognize leukodystrophies and to contribute ongoing research into causes of and treatments for the disorders.

"We now are looking at the molecular biology of the disease," says O'Neill. "The challenge is to translate what we find in the test tube into specific therapies. At this point, we can treat patients with specialized neurologic management of behavioral problems and other symptoms. The clinic also can provide genetic counseling to patients' families."

For more information about the Partners Leukodystrophy Clinic, call (617) 726-5750.