Diseases Studied
The Rare Diseases Clinical Research Network is an NIH-funded research network of 21 active consortia or research groups working to advance treatment for diseases that are rare. Use the search tools on this page to find the diseases we currently study. You can reach out to the indicated consortia or research groups for more information on those diseases and studies underway.
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All Diseases > Leukoencephalopathy with calcifications and cysts
Leukoencephalopathy with calcifications and cysts
Alternative Names: LCC
Disease Category: Leukodystrophies
A type of leukodystrophy caused by mutations in the SNORD118 gene. Leukodystrophies are a complex, often progressive group of disorders affecting the white matter of the brain due to the loss or absence of myelin, the protective coating around nerves. LCC is characterized by damage to brain tissue (specifically white matter), calcium build up in brain tissue (cerbral calcifcation), and fluid-filled sacs within brain tissue (cerbral cysts). The cerebral cysts may be small (microcystic) or large (macrocystic). LCC can affect people of any age and progresses over time. Symptoms include problems with the nervous system, such as difficulty thinking and seizures. People with LCC may also experience problems with movement, including difficulty with coordination (pyramidial feature), muscle stiffness (extrapyramidal feature), and difficulty with balance (cerbellum feature).
Research groups studying this disease
Leukodystrophies
Global Leukodystrophy Initiative Clinical Trials Network (GLIA-CTN)