A biochemical marker for the diagnosis of a central nervous system
leukodystrophic genetic disorder, e.g., Childhood Onset Ataxia and
Central Nervous System Hypomyelination (CACH)/Vanishing White Matter
Disease (VWM) has been discovered herein. Such a marker has been found in
the cerebrospinal fluid (CSF) of such patients. A two dimensional gel
electrophoresis/mass spectrometry or image analysis of stained
transferrin isoforms approach revealed that patients with CACH/VWM have a
pronounced deficiency of the basic asialo form of the transferrin
compared to the amounts of asialotransferrin normally present in CSF from
healthy controls or other CNS disorders. The acidic sialotransferrin
isoform is not reduced in these disorders. The transferrin isoform
abnormality described in the CSF of patients with CACH/VWM is unique and
may be used as a clinical diagnostic biomarker. The rapid (48 hr) and
efficient diagnosis of this disorder described herein will have great
clinical utility.