Thelansis

  Alexander disease is an autosomal dominant disorder caused by the mutations in this protein led to decreased GFAP solubility. They triggered the formation of inclusion bodies, such as the Rosenthal fibers, leading to the accumulation of abnormal astrocytes and myelin pallor throughout the affected brain tissue. Three forms of Alexander disease are diagnosed: around 51% of infants with a typical presentation before 6 months of age, 23% of juveniles, and 24% of adults. The typical infantile form presents with macrocephaly, failure to thrive, difficulty swallowing, loss of intellectual/motor milestones, lower extremity weakness, ataxia, seizures, and occasionally hydrocephalus. The juvenile and adult forms are dominated more by ataxia and bulbar/ pseudobulbar symptoms, as well as the seizures and lower extremity weakness seen in the infantile form. Typical imaging characteristics include frontal-predominant subc...