Leukodystrophy Service

The Leukodystrophy clinic session meets every week on Wednesday afternoons and evaluates children and young adults with inherited disorders of central nervous system white matter. This multidisciplinary clinic coordinates x-ray and magnetic resonance imaging, genetic counseling, neurophysiological and biochemical testing in addition to management of the unique problems encountered by Leukodystrophy sufferers. The service coordinates referrals to urology, neuropsychology, orthopedics, pulmonary, nutritional and rehabilitation services. As part of the diagnostic work-up, we perform magnetic resonance imaging and spectroscopy (MRS). MRS is a new, painless and non-invasive technique that can dissect some of the biochemical abnormalities taking place in the brain's white matter. The Leukodystrophy service is also involved in both basic and clinical/translational research. Currently, the main focus in our laboratory is adrenoleukodystrophy. The service, however, cares for all diseases covered by the Leukodystrophy rubric, including ALD, metachromatic Leukodystrophy, Krabbe's disease, Canavan's disease, Alexander's disease, Childhood ataxia with cerebral hypomyelination (&vanishing white matter disease&) and other undiagnosed white matter disorders.

Attending Physician: Florian Eichler, M.D.

To schedule an appointment at the Leukodystrophy Service Clinic and for all referrals, please
call (617) 726-6093.

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