Leukodystrophies: classification, diagnosis, and treatment.
BACKGROUND
The leukodystrophies are a heterogeneous group of diseases, which primarily affect white matter. Symptomatic patients are frequently misdiagnosed and the leukodystrophies are collectively under recognized. However, with ongoing research and increased availability of neuroimaging, our understanding of these diseases is increasing at a steady rate. Recent advances in the diagnosis and treatment of certain forms of leukodystrophy should prompt increased awareness of these diseases in clinical practice.


RESULTS
The clinical features, pathophysiology, and therapeutic approach to these diseases are described. Particular emphasis is placed on genetic and pathophysiologic mechanisms, imaging patterns, screening of other family members and, where available, treatment options and resources.


CONCLUSIONS
With more widespread use of neuroimaging, both pediatric and adult neurologists will increasingly be confronted with white matter disorders. Neurologists should have an approach to the recognition, diagnosis, and management of white matter diseases in general and the leukodystrophies in specific.
Costello
Daniel J
DJ
Department of Neurology, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02114, USA.
Eichler
April F
AF
Eichler
Florian S
FS
D017668:Age of Onset; D003952:Diagnostic Imaging / Q000379:methods; D020279:Hereditary Central Nervous System Demyelinating Diseases / Q000145:classification / Q000175:diagnosis / Q000628:therapy; D006801:Humans; D009413:Nerve Fibers, Myelinated / Q000473:pathology*