[PS13-2A-2] Leukodystrophies and Genetic Leukoencephalopathies in Childhood
Genetic related leukoencephalopaties are comprised of leukodytropies (LD) and narrowly defined genetic leukoencephalopathies(gLE). Leukodystrophies are inherited disorders affecting the white matter of the central nervous system with or without peripheral nervous system involvement. There are over thirty conditions typically categorized as LD and numerous other heritable conditions (gLE) that affect the white matter of the brain. LDs are those heritable conditions of the white matter that primarily effect glial cells, while gLE are disorders with either primary neuronal, vascular or systemic involvement, in which the white matter changes are only part of the disease. With the implementation of next generation sequencing (NGS) in clinical practice, more and more genes were identified in previously unknown genetic related leukoencephalopathies. More than 300 cases of various LDs or gLEs were gene confirmed in our centre, which is the major centre focused on white matter disorders in childhood in mainland China. A diagnostic flow chart will be given in this talk, including clinical features suggesting LD or gLE, neuroimaging analysis, biochemical study and gene sequencing. And some of newly defined disorders will be discussed, including hypomyelination wit brainstem and spinal cord involvement and leg spasticity (HBSL), and some of mitochondrial leukoencephalopathies as well.