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, spans from newborn to elderly period. Sometimes signs of leukodystrophy can be evident prenatally through especial imaging studies. 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 are non-specific and overlap with many 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.
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.
Based on the UF Shands Hospital tradition on integrating research, teaching, and patient care, this training position will offer a unique opportunity for the trainee to be continuously involved in research projects related to leukodystrophies. Dr. Gustavo H.B. Maegawa, MD, Ph.D., faculty and metabolic geneticist the Division of Genetics & Metabolism at UF Department of Pediatrics is actively involved in basic, translational and clinical research in lysosomal disorders affecting the brain. Dr. Maegawa coordinates a Lysosomal 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. Some lysosomal diseases are caused by a deficiency of enzymes important for the degradation/turnover of metabolites important for myelin formation, causing leukodystrophies.
The University of Florida (UF) Health, the Southeast’s most comprehensive academic health center, which encompasses ~1,300 faculties and community physicians working in hospitals, physician practices, colleges, centers, institutes, programs, and services across the northeast and north-central Florida. The medical staff provides care in more than 100 specialty and subspecialty medical areas, from primary care to highly complex care, including cancer specialties, heart care, women and children’s services, neuro medicine specialties, and transplant services. Patients come to UF Health from all 67 Florida counties, throughout the nation and more than a dozen countries each year. In addition, approximately 12,000 UF Health and UF Health Jacksonville employees and more than 800 volunteers contribute to our health system’s excellent reputation for quality care and service.
The UF Health core mission is to promote health through outstanding and high-quality patient care, innovative and rigorous education in the health professions and biomedical sciences, and high-impact research covering a broad spectrum of areas from basic, translational, and to clinical investigation.
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
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.
About the Leukodystrophy Care Network
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.