... leukodystrophies comprise a subclass of genetic disorders with deficient myelination of the CNS white matter. Here we report four unrelated families with a hypomyelinating leukodystrophy phenotype harbouring variants in TMEM163 (NM_030923.5). The initial clinical presentation resembled Pelizaeus...

.... See Zhou and Rademakers (doi: 10.1093/brain/awx318 ) for a scientific commentary on this article. Hypomyelinating leukodystrophies are a heterogeneous group of disorders. Simons et al. identify four patients with brain hypomyelination and a remarkably benign clinical presentation, all...

.... Hypomyelinating leukodystrophies are genetically heterogeneous disorders. In a multinational collaboration between tertiary referral centres for leukodystrophies, Dorboz et al. report a previously unrecognised severe variant of hypomyelinating leukodystrophy. The variant is associated with biallelic...

...), either naive or genetically modified to express supranormal levels of β-galactocerebrosidase (GALC), were transplanted into the brain of Twitcher mice, a murine model of globoid cell leukodystrophy, a severe sphingolipidosis. Cells engrafted long-term into the host cytoarchitecture, producing functional...

... sphingolipidoses Gaucher disease (glucocerebrosidase deficiency) Krabbe disease (galactocerebrosidase deficiency) Niemann-Pick disease (sphingomyelin lipidosis) gangliosidoses metachromatic leukodystrophy neuronal ceroid lipofuscinosis peroxisomal disorders adrenoleukodystrophy mitochondrial...

... disease metachromatic leukodystrophy Niemann-Pick disese mycopolysaccharidoses oligosaccharidosis gangliosideoses leukodystrophies neuronal ceroid lipofuscinoses Danon disease Endoplasmic reticulum ER associated degradation ERAD lysosomal storage disorders Fabry disease Hunter syndrome...

... records of teaching and scholarship. Ali Fatemi, who trained in pediatric neurology and neurogenetics at Massachusetts General and is head of the Moser Center for Leukodystrophies, brings expertise in clinical and research neurogenetics to the editorial team....