DESCRIPTION
There are more than fifty different types of leukodystrophy. Each leukodystrophy is caused by a mutation (error) in a specific gene.
Some types of leukodystrophy include:
- Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP)
- Aicardi-Goutières syndrome
- Adrenoleukodystrophy
- Alexander disease
- Canavan disease
- Cerebrotendinous xanthomatosis
- Krabbe disease
- Metachromatic leukodystrophy
- Pelizaeus-Merzbacher disease
- Refsum disease
- Vanishing white matter disease
- Zellweger syndrome spectrum disorders
Each leukodystrophy can also be described by when symptoms start:
Infantile.
Childhood (juvenile).
Adulthood.
CAUSES
Leukodystrophies are genetic (hereditary) disorders. Some leukodystrophies are usually passed down from parents to their children (inherited). Others do not tend to run in families. These may show up for the first time in the affected person.
Genetic disorders are caused by changes in DNA. DNA contains instructions that tell the body how to function. Changes in DNA happen randomly. These changes are not anyone’s fault.
Each type of leukodystrophy is caused by a change in a specific gene. Many genetic causes have been found. Others are not yet known.
LABORATORY INVESTIGATIONS
Some leukodystrophies may be found with newborn screening. This is a blood test done on all infants. Only some states include these disorders in the newborn screening test. Many leukodystrophies are not part of the newborn screening test.
Specific testing is needed to diagnose leukodystrophy. This testing may include:
- Blood and urine tests
- Spinal fluid tests
- Neuroimaging (MRI of the brain and/or spinal cord)
- Genetic testing
It is possible to have a leukodystrophy and not find a genetic cause.
Other testing may be done, depending on symptoms. This includes:
Resources
United Leukodystrophy Foundation
The United Leukodystrophy Foundation (ULF) is a volunteer-based health organization dedicated to providing patients and their families with information about leukodystrophies. The ULF provides assistance in identifying sources of medical care, social services, and genetic counseling. In addition, the ULF works to establish a communication network among families; as well as increases public awareness and acts as an information source for health care providers by promoting and supporting research into causes, treatments, and prevention of the leukodystrophies.
Hunter’s Hope Foundation was established to address the acute need for information and research with respect to Krabbe disease and other related leukodystrophies.
The mission is four-fold:
- To broaden public awareness of Krabbe disease and other leukodystrophies thus increasing the probability of early detection and treatment.
- To gather and provide current, functional information and service linkages to families of children with leukodystrophies.
- To fund research efforts that will identify new treatments, therapies and ultimately, a cure for Krabbe disease and other leukodystrophies.
- To establish an alliance of hope that will nourish, affirm and confront the urgent need for medical, financial and emotional support of family members and those afflicted with leukodystrophies.
Global Leukodystrophy Initiative Clinical Trials Network
The Global Leukodystrophy Initiative Clinical Trials Network (GLIA-CTN) is a consortium of scientists, industry stakeholders, and patient advocacy leaders working together to promote advances in the diagnosis and treatment of leukodystrophies. The GLIA-CTN works with advocacy partners around the world. These organizations help patients and families identify the most appropriate diagnostic and/or therapeutics options and provide them with the resources needed to optimize their care.
Publications
Podcast from SAGE Neuroscience and Neurology/Journal of Child Neurology (JCN). In this podcast, Dr. Alison Christy interviews Dr. Joshua Bonkowsky about his article: “Scope and Burden of Non-Standard of Care Hematopoietic Stem Cell Transplantation in Pediatric Leukodystrophy Patients.” She also interviews Dr. Adeline Vanderver, Pediatric Neurologist and Program Director of the Leukodystrophy Center of Excellence at the Children’s Hospital of Philadelphia.
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