Leukodystrophies
Leukodystrophies (LDs) are a group of rare, genetic disorders unified by their hallmark involvement of the cerebral white matter. They are typically characterized as progressive disorders, resulting in severe neurological decline, and premature death within months to years after onset.
Over 100 different types of leukodystrophies have been identified and they affect approximately 1 in 4,733 live births.
It is estimated that 20-30% of pediatric and 50-70% of adult patients do not have a diagnosis.
LDs are classified based on the contribution of specific cell types as the drivers of white matter pathology (van der Knaap and Bugiani, 2017):
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Myelin Disorders
Astrocytopathies
Leuko-axonopathies
Microgliopathies
Leuko-vasculopathies
Multidisciplinary Care Approach
Patients with a leukodystrophy require a multidisciplinary care approach, involving neurology, rehabilitation, primary care, and social support services, often coordinated across multiple institutions and regions.
Disease Modifying Treatment
For most leukodystrophies, no disease-modifying treatments exist. Canadian families face limited clinical trial options and few approved therapies, despite the progressive and life-limiting nature of these conditions.
Leukodystrophy Research
Research in leukodystrophies has advanced rapidly, but major gaps remain in understanding disease mechanisms, outcomes, and therapies. We must invest in collaborative research to turn discovery into real-world impact for patients.