In this clinical summary, Dr. Raphael Schiffmann of the Institute of Metabolic Disease at Baylor Research Institute discusses leukodystrophies, a heterogeneous group of genetic disorders affecting the white matter of the central nervous system, sometimes with peripheral nervous system involvement. They are now most commonly grouped based on the initial pattern of central nervous system white matter abnormalities on neuroimaging. All leukodystrophies have MRI hyperintense white matter on T2-weighted images, whereas T1 signal may be variable. Mildly hypo-, iso- or hyperintense T1 signal relative to the cortex suggests a hypomyelinating patter. A significantly hypointense T1 signal is associated with a demyelinating form. Early diagnosis is important for genetic counseling and appropriate therapy where available.
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