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

• DOI: 10.1055/s-0039-1685439
• Publication Date: 2019-05-13T14:44:34Z
• Authors: I. Dorboz; D.C. Pant; A. Schluter; S. Fourcade; D. Rodriguez; I. Desguerre; D. Ville; L. Colleaux; A. Pujol; O. Boespflug-Tanguy
• Keywords: Sphingolipid

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 ultrarare forms undetermined leukodystrophies