This subproject is one of many research subprojects utilizing theresources provided by a Center grant funded by NIH/NCRR. The subproject andinvestigator (PI) may have received primary funding from another NIH source,and thus could be represented in other CRISP entries. The institution listed isfor the Center, which is not necessarily the institution for the investigator.Abnormalities of white matter are among the most prevalent inborn neurological disorders encountered in the clinical practice of pediatric neurology. With the development of more sensitive imaging modalities, these disorders are being recognized earlier and more frequently. While a biochemical defect that disturbs myelin metabolism can be identified in some cases, the underlying etiology for the majority of these disorders remains unknown. Molecular diagnostic techniques remain underutilized for this category of disorders. The PI has developed molecular tests for three of the rare leukodystrophies: Alexander disease (AD), Vanishing white matter (VWM), and Megalencephalic Leukoencephalopathy with cysts (MLC). Patient information, including MRI, is reviewed and recorded in a custom database. Blood is requested for DNA isolation and genes for AD, VWM and MLC are sequenced.
Aim 1 : Create rigorous definitions for the sub-classification of leukoencephalopathies of unknown etiology based on similarities in clinical, neuroimaging, and biochemical findings.
Aim 2 : Correlate patient classification with molecular testing for known leukodystrophies.
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