Leukodystrophies are inherited white matter disorders of the brain. A first important step, especially in adult neurology, is the differential diagnosis with acquired forms of white matter disorders. The pathophysiology of leukodystrophies is complex and encompasses oligodendrocytopathies, astrocytopathies, microgliopathies, leuko-axonopathies and leuko-vasculopathies.
Novel biological and imaging markers are being developed to monitor disease onset, disease progression and response to treatment. These developments are especially important as there are increasing therapeutic options for leukodystrophies, from cell therapy (e.g., hematopoietic stem cell transplant) to gene therapy and small molecules. The acceleration of therapeutics has led to the development of new-born screening programmemes for leukodystrophies, which also raise ethical questions.
