Hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS): update on molecular genetics.

摘要: Hereditary diffuse leukoencephalopathy with spheroids (HDLS) is a rare autosomal dominant disease characterized by giant neuroaxonal swellings (spheroids) within the cerebral white matter (WM). Symptoms are variable and can include cognitive, mental motor dysfunctions. Patients carry mutations in protein kinase domain of colony-stimulating factor 1 receptor (CSF1R) which tyrosine essential for microglia development. To date, more than 50 pathogenic variants have been reported patients HDLS, including missense, frameshift non-sense mutations, but also deletions splice-site all located intracellular domain, encoded exons 12–22. The aim this paper to review literature data about molecular genetic pattern HDLS.