Phospholipase A2-activating protein is associated with a novel form of leukoencephalopathy.

ABSTRACT: Leukoencephalopathies are a group of white matter disorders related to abnormal formation, maintenance, and turnover of myelin in the central nervous system. These disorders of the brain are categorized according to neuroradiological and pathophysiological criteria. Herein, we have identified a unique form of leukoencephalopathy in seven patients presenting at ages 2 to 4 months with progressive microcephaly, spastic quadriparesis, and global developmental delay. Clinical, metabolic, and imaging characterization of seven patients followed by homozygosity mapping and linkage analysis were performed. Next generation sequencing, bioinformatics, and segregation analyses followed, to determine a loss of function sequence variation in the phospholipase A₂-activating protein encoding g

SUBMITTER: Falik Zaccai TC 

PROVIDER: S-EPMC5841054 | biostudies-literature | 2017 Feb

REPOSITORIES: biostudies-literature