Leukodystrophies with late disease onset: an update
- 1 June 2010
- journal article
- review article
- Published by Ovid Technologies (Wolters Kluwer Health) in Current Opinion in Neurology
- Vol. 23 (3), 234-241
- https://doi.org/10.1097/wco.0b013e328338313a
Abstract
Knowledge of the metabolic and genetic basis of known and previously unknown leukodystrophies is constantly increasing, opening new treatment options such as enzyme replacement or cell-based therapies. This brief review highlights some recent work, particularly emphasizing results from studies in adulthood leukodystrophies.Evidence from recent studies suggests increasing importance of metabolic dysfunctions, for example, in peroxisomal lipid metabolism or energy homeostasis, influencing axonal integrity and oligodendrocyte function and leading to white matter demyelination. In addition, diagnostic and therapeutic progress in metachromatic leukodystrophy, X-linked adrenoleukodystrophy, Krabbe diseases and other rare leukodystrophies with late onset are summarized.Better understanding of leukodystrophies in neurological routine practice is of crucial importance for differentiating between other white matter diseases such as toxic, inflammatory or vascular leukoencephalopathies. Many leukodystrophies are particularly important to recognize because specific treatments already exist or are currently under investigation. The article also provides an overview of currently known leukodystrophies in adulthood.Keywords
This publication has 85 references indexed in Scilit:
- Leukodystrophies and other genetic metabolic leukoencephalopathies in children and adultsBrain & Development, 2010
- LeukodystrophiesThe Neurologist, 2009
- Metachromatic Leukodystrophy: A Scoring System for Brain MR Imaging ObservationsAmerican Journal of Neuroradiology, 2009
- Invited Article: An MRI-based approach to the diagnosis of white matter disordersNeurology, 2009
- Diagnostic algorithm for the differentiation of leukodystrophies in early MSZeitschrift für Neurologie, 2008
- Neuregulin‐1, a key axonal signal that drives Schwann cell growth and differentiationGlia, 2008
- Axon-Glial Signaling and the Glial Support of Axon FunctionAnnual Review of Neuroscience, 2008
- Oligodendroglial impact on axonal function and survival – a hypothesisCurrent Opinion in Neurology, 2008
- Leukoencephalopathies associated with inborn errors of metabolism in adultsJournal of Inherited Metabolic Disease, 2008
- Axonal loss and neuroinflammation caused by peroxisome-deficient oligodendrocytesNature Genetics, 2007