Myelin in the central nervous system: structure, function, and pathology

C Stadelmann, S Timmler… - Physiological …, 2019 - journals.physiology.org
Oligodendrocytes generate multiple layers of myelin membrane around axons of the central
nervous system to enable fast and efficient nerve conduction. Until recently, saltatory nerve …

Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia: review of clinical manifestations as foundations for therapeutic development

S Papapetropoulos, A Pontius, E Finger… - Frontiers in …, 2022 - frontiersin.org
A comprehensive review of published literature was conducted to elucidate the genetics,
neuropathology, imaging findings, prevalence, clinical course, diagnosis/clinical evaluation …

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 …

[HTML][HTML] Quantitative MRI in leukodystrophies

MD Stellingwerff, PJW Pouwels, SD Roosendaal… - NeuroImage: Clinical, 2023 - Elsevier
Leukodystrophies constitute a large and heterogeneous group of genetic diseases primarily
affecting the white matter of the central nervous system. Different disorders target different …

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 quest for high spatial resolution diffusion‐weighted imaging of the human brain in vivo

SJ Holdsworth, R O'Halloran… - NMR in …, 2019 - Wiley Online Library
Diffusion‐weighted imaging, a contrast unique to MRI, is used for assessment of tissue
microstructure in vivo. However, this exquisite sensitivity to finer scales far above imaging …

Quantitative MRI distinguishes different leukodystrophies and correlates with clinical measures

MD Stellingwerff, ML Al-Saady, KS Chan, A Dvorak… - European …, 2024 - Springer
Objectives The leukodystrophy “vanishing white matter”(VWM) and “metachromatic
leukodystrophy”(MLD) affect the brain's white matter, but have very different underlying …

POLR3-related leukodystrophy: Exploring potential therapeutic approaches

S Perrier, MA Michell-Robinson… - Frontiers in Cellular …, 2021 - frontiersin.org
Leukodystrophies are a class of rare inherited central nervous system (CNS) disorders that
affect the white matter of the brain, typically leading to progressive neurodegeneration and …

Leukodystrophy imaging: insights for diagnostic dilemmas

RN Thakkar, D Patel, IP Kioutchoukova, R Al-Bahou… - Medical …, 2024 - mdpi.com
Leukodystrophies, a group of rare demyelinating disorders, mainly affect the CNS. Clinical
presentation of different types of leukodystrophies can be nonspecific, and thus, imaging …

Diffusion tensor imaging of the brain in Pompe disease

JJA van den Dorpel, MHG Dremmen… - Journal of …, 2023 - Springer
Enzyme replacement therapy has drastically changed prospects of patients with Pompe
disease, a progressive metabolic myopathy. As classic infantile patients survive due to …