Hypomyelinating leukodystrophies—Unravelling myelin biology

NI Wolf, C Ffrench-Constant… - Nature Reviews …, 2021 - nature.com
Hypomyelinating leukodystrophies constitute a subset of genetic white matter disorders
characterized by a primary lack of myelin deposition. Most patients with severe …

Neuron-oligodendrocyte interactions in the structure and integrity of axons

GJ Duncan, TJ Simkins, B Emery - Frontiers in Cell and …, 2021 - frontiersin.org
The myelination of axons by oligodendrocytes is a highly complex cell-to-cell interaction.
Oligodendrocytes and axons have a reciprocal signaling relationship in which …

The CNS myelin proteome: deep profile and persistence after post-mortem delay

O Jahn, SB Siems, K Kusch, D Hesse… - Frontiers in Cellular …, 2020 - frontiersin.org
Myelin membranes are dominated by lipids while the complexity of their protein composition
has long been considered to be low. However, numerous additional myelin proteins have …

Breaking down the cellular responses to type I interferon neurotoxicity in the brain

B Viengkhou, MJ Hofer - Frontiers in Immunology, 2023 - frontiersin.org
Since their original discovery, type I interferons (IFN-Is) have been closely associated with
antiviral immune responses. However, their biological functions go far beyond this role, with …

An update on clinical, pathological, diagnostic, and therapeutic perspectives of childhood leukodystrophies

MR Ashrafi, M Amanat, M Garshasbi… - Expert review of …, 2020 - Taylor & Francis
Introduction: Leukodystrophies constitute heterogenous group of rare heritable disorders
primarily affecting the white matter of central nervous system. These conditions are often …

Trials for slowly progressive neurogenetic diseases need surrogate endpoints

MM Reilly, DN Herrmann, D Pareyson… - Annals of …, 2023 - Wiley Online Library
Heritable neurological disorders provide insights into disease mechanisms that permit
development of novel therapeutic approaches including antisense oligonucleotides, RNA …

Peripheral neuropathy in metachromatic leukodystrophy: current status and future perspective

S Beerepoot, S Nierkens, JJ Boelens… - Orphanet journal of rare …, 2019 - Springer
Metachromatic leukodystrophy (MLD) is an autosomal recessively inherited metabolic
disease characterized by deficient activity of the lysosomal enzyme arylsulfatase A. Its …

Metachromatic leukodystrophy and transplantation: Remyelination, no cross‐correction

NI Wolf, M Breur, B Plug, S Beerepoot… - Annals of clinical …, 2020 - Wiley Online Library
Objective In metachromatic leukodystrophy, a lysosomal storage disorder due to decreased
arylsulfatase A activity, hematopoietic stem cell transplantation may stop brain …

Recognizing early MRI signs (or their absence) is crucial in diagnosing metachromatic leukodystrophy

DH Schoenmakers, S Beerepoot… - Annals of clinical …, 2022 - Wiley Online Library
Objectives Metachromatic leukodystrophy (MLD) has characteristic white matter (WM)
changes on brain MRI, which often trigger biochemical and genetic confirmation of the …

The genetic and phenotypic spectra of adult genetic leukoencephalopathies in a cohort of 309 patients

C Wu, M Wang, X Wang, W Li, S Li, B Chen, S Niu… - Brain, 2023 - academic.oup.com
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 …