Leukodystrophies are a rare group of inherited diseases that affect the white matter of the brain and spinal cord. The white matter is the inner layer of the brain and is made up of myelin and glial cells. Myelin provides a protective covering to the nerves in the brain, spine, and peripheral nerves. People with leukodystrophies have an abnormal gene, resulting in the loss of proteins or enzymes. The missing proteins or enzymes cause abnormal development or injury to the cells and myelin in the brain. Without myelin, the nerves cannot function properly, leading to a wide range of neurologic symptoms.
Nearly 50 different leukodystrophies have been identified as per recent literature. The leukodystrophies are in general progressive diseases as affected individuals present worsening health problems over their lifespan. The initial health problems, which are mostly neurological, can start in the newborn or later in life even in old age. Usually, children that present earlier have a progression of the disease more than those individuals presenting first problems by teenage or adulthood. The suspected diagnosis starts with a brain Magnetic Resonance Imaging (MRI). However, the definitive diagnosis will be done through a detailed interpretation of the brain MRI images, clinical findings, and different a comprehensive metabolic or genetic panel of tests. It is not uncommon that patients can be misdiagnosed with multiple neurological disorders as the initial problems can overlap with other more common conditions.
Treatment for leukodystrophies can be grouped into disease-specific therapy, such as correcting the genetic or metabolic defect, or symptomatic therapy, such as treating muscle stiffness or seizures. While some of these rare diseases have become treatable, for most leukodystrophies, no disease-specific therapy exists.
Examples of Leukodystrophies
- Alexander Disease
- Canavan Disease
- Cerebrotendinous Xanthomatosis
- Krabbe Disease (globoid-cell leukodystrophy)
- Metachromatic Leukodystrophy
- Pelizaeus-Merzbacher Disease
- Vanishing White Matter Leukodystrophy
- X-linked adrenoleukodystrophy
- Lysosomal Storage Disease
UF Shands Leukodystrophy Mission
The UF Shands Leukodystrophy Center provides a multidisciplinary approach tailored to the individual needs of each patient through their different stages of the disease. The center includes well-trained health professionals from several specialties and departments that work together to plan and offer the best options and care for specific patient’s needs.
S. Parrish Winesett, MD, Associate Professor, in the Division of Neurology in the Department of Pediatrics is actively involved in clinical research in lysosomal disorders affecting the central nervous system. Dr. Winesett coordinates the Leukodystrophy Disease Center which is a comprehensive and diverse center with a multi-facet approach to improve screening, diagnosis, general management, and therapeutic monitoring in patients affected with these progressive inherited disorders. He also works with our Genetic Therapy Center in developing protocols for future research in Leukodystrophy.
Leukodystrophy Care Network
UF Health Shands Children’s Hospital is a Leukodystrophy Care Network (LCN) Affiliate Center working toward LCN Center Certification and/or providing specialty services that benefit the Leukodystrophy Community.
The Leukodystrophy Care Network (LCN) is a community of affected families, organizations, and medical providers committed to revolutionizing the health and quality of life of individuals affected by Leukodystrophies with proactive, innovative, and comprehensive medical care standards and specialized centers.