O22: A novel clinical-translational model of leukoencephalopathy with calcifications and cysts recapitulates the human phenotype
Abstract
Leukoencephalopathy with Calcifications and Cysts (LCC) is a progressive, ultra-rare disorder for which no disease-modifying therapy exists. LCC is classically characterized by a triad of T2-white matter hyperintensity, calcifications, and cysts on brain imaging. Individuals with LCC experience poor growth, regression of functional abilities, seizures, and movement disorders. Biallelic pathogenic variants in SNORD118 cause LCC by disrupting the U8 ribonucleoprotein complex, but the underlying mechanisms of disease are not well understood, thus stalling therapeutic development.
Fields of Study & Subjects
Genetics and Neurodevelopmental Disorders
Neurological diseases and metabolism
Genomics and Rare Diseases
Publication details
- Journal / source
- Genetics in Medicine Open
- Volume
- 4
- Pages
- 104309–104309
- Publication date
- 1 January 2026
- Language
- EN