Objective An approved definition of the term leukodystrophy does not currently exist. The lack
of a precise case definition hampers efforts to study the epidemiology and the relevance of …

Leukodystrophies (LD) and genetic leukoencephalopathies (gLE) are disorders that result
in white matter abnormalities in the central nervous system (CNS). Magnetic resonance (MR) …

On April 21, 2015, the first SCN 8A Encephalopathy Research Group convened in Washington,
DC , to assess current research into clinical and pathogenic features of the disorder and …

Aicardi–Goutières syndrome is an inflammatory disease occurring due to mutations in any
of TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR or IFIH1. We report on …

JAK Inhibition in the Aicardi–Goutières Syndrome Patients with the Aicardi–Goutières
syndrome, an autosomal recessive disorder that affects the central nervous system, immune …

Here we report whole exome sequencing (WES) on a cohort of 71 patients with persistently
unresolved white matter abnormalities with a suspected diagnosis of leukodystrophy or …

Mutations in genes encoding aminoacyl-tRNA synthetases are known to cause leukodystrophies
and genetic leukoencephalopathies—heritable disorders that result in white matter …

Leukodystrophies were defined in the 1980s as progressive genetic disorders primarily
affecting myelin of the central nervous system. At that time, a limited number of such disorders …

Mutations in the mitochondrial or nuclear genomes are associated with a diverse group of
human disorders characterized by impaired mitochondrial respiration. Within this group, an …

… Guy Helman: analysis and interpretation of data, acquisition of data. Umberto Balottin:
revising the manuscript for content. Elisa Fazzi: revising the manuscript for content, acquisition of …