Genetic leukoencephalopathies (gLEs) are a highly heterogeneous group of rare genetic
disorders. The spectrum of gLEs varies among patients of different ages. Distinct from the …

Leukodystrophies (LDs) are a heterogeneous group of progressive neurological disorders
and characterized by primary involvement of white matter of the central nervous system …

Background Leukodystrophies are monogenic disorders primarily affecting the white matter.
We aimed to evaluate the utility of genetic testing and time-to-diagnosis in a retrospective …

Aim To describe the specific brain magnetic resonance imaging (MRI) patterns of the
paediatric genetic disorders associated with white matter abnormalities in Northern Finland …

Background The pediatric genetic white matter disorders are characterized by a broad
disease spectrum. Genetic testing is valuable in the diagnosis. However, there are few …

Krabbe disease (KD), a severe neurodegenerative disorder, has been controversial in the
space of newborn screening (NBS) in the United States. Families continue to advocate for …

Leukodystrophies and leukoencephalopathies, a heterogeneous set of conditions now often
referred to as 'genetic white matter disorders'(GWMDs), have been a problematic set of …

Genetic white matter disorders (GWMD), leukodystrophies and genetic
leukoencephalopathies, are a major cause of neurodevelopmental disorders. Over a …