What this covers
Leukodystrophies are genetically determined disorders that specifically affect the white matter of the central nervous system, and can begin at any age from before birth to old age. This review proposes a new way of classifying them, based on which component of the white matter is primarily affected.
Key takeaways
- The last decade has seen a large rise in the number of recognised leukodystrophies, helped by combining MRI pattern recognition with next-generation genetic sequencing.
- Only a few leukodystrophies are due to faults in myelin- or oligodendrocyte-specific genes; many instead stem from defects in other white matter components, including astrocytes, microglia, axons and blood vessels.
- The proposed classification groups the disorders into categories such as myelin disorders, astrocytopathies, leuko-axonopathies, microgliopathies and leuko-vasculopathies, with some conditions falling into more than one.
Why it matters
Recognising which cell type underlies a given leukodystrophy is central to identifying possible treatment strategies for these often progressive, and at present incurable, diseases.
