Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP)/CSF1R related leukoencephalopathy
https://www.nature.com/articles/s41598-024-84665-w
Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) is a rare white matter disease leading to progressive neurological decline. Although the CSF1R gene is the primary causative gene for ALSP, it is unclear how many individuals clinically suspected to have ALSP present mutations in the CSF1R gene. This retrospective study explored the prevalence of CSF1R mutations in ALSP patients and detailed the clinical features, specifically in the Korean population. Researchers genetically screened 28 patients classified as probable (n=6) or possible (n=22) ALSP based on clinical and radiological diagnostic criteria from Konno et al. A definitive genetic diagnosis of ALSP was made for five probable and four possible ALSP cases. One individual tested negative for CSF1R mutations but was definitively diagnosed as ALSP based on histopathological features. All ten patients presented with cognitive and psychiatric symptoms and characteristic bilateral brain imaging findings aligning with the clinical features reported in other countries. Researchers further found that age of onset, rapid progression, and diffuse hyperintensity (white spot on an MRI that is brighter than other areas suggesting abnormality) in the splenium (part of the corpus collosum, the largest white matter structure of the brain) were more prevalent in patients with CSF1R mutations than without, suggesting these features as key indicators of ALSP. Despite some limitations to the study (e.g. small sample size), this research highlights the value of CSF1R genetic testing and brain imaging in providing diagnostic insights.