Leukodystrophies
- 1 November 2009
- journal article
- review article
- Published by Ovid Technologies (Wolters Kluwer Health) in The Neurologist
- Vol. 15 (6), 319-328
- https://doi.org/10.1097/nrl.0b013e3181b287c8
Abstract
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. 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. 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.Keywords
This publication has 60 references indexed in Scilit:
- Invited Article: An MRI-based approach to the diagnosis of white matter disordersNeurology, 2009
- Magnetic Resonance Imaging Detection of Lesion Progression in Adult Patients With X-linked AdrenoleukodystrophyArchives of Neurology, 2007
- Magnetic resonance techniques in the assessment of myelin and myelinationJournal of Inherited Metabolic Disease, 2005
- Cerebral X‐linked adrenoleukodystrophy in a girl with Xq27‐Ter deletionAnnals of Neurology, 2002
- Adrenoleukodystrophy: Incidence, new mutation rate, and results of extended family screeningAnnals of Neurology, 2001
- Presenile‐onset cerebral adrenoleukodystrophy presenting as Balint's syndrome and dementiaNeurology, 1993
- Familial spinocerebellar degeneration as an expression of adrenoleukodystrophy.Journal of Neurology, Neurosurgery & Psychiatry, 1986
- Familial spastic paraparesisNeurology, 1985
- The adrenoleukomyeloneuropathy complexNeurology, 1981
- Addison disease and cerebral sclerosis in an apparently heterozygous girl: evidence for inactivation of the adrenoleukodystrophy locusClinical Genetics, 1980