A Novel Hypomyelinating Leukodystrophy Caused by Loss of the Sphingolipid Desaturase DEGS1 with Potential Therapy

I. Dorboz,D.C. Pant,A. Schluter,S. Fourcade,D. Rodriguez, I. Desguerre,D. Ville,L. Colleaux,A. Pujol,O. Boespflug-Tanguy

Neuropediatrics（2019）

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摘要

Objectives: Leukodystrophies (LD) is a heterogeneous group of neurogenetic disorders that primarily affect the brain’s white matter. Despite progress in clinico-MRI (magnetic resonance imaging) classification and genomics, many cases remain unexplained with an unknown biochemical or molecular basis. Our objective was to identify genes involved in the ultrarare forms of undetermined leukodystrophies

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