Results 11 to 20 of about 24,692 (277)
Biomedicines, 2022 Recessive mutations in the POLR3A gene cause POLR3-HLD (the second-most-common form of childhood-onset hypomyelinating leukodystrophy), a neurodegenerative disorder featuring deficient cerebral myelin formation. To date, more than 140 POLR3A (NM_007055.3)
Antonino Musumeci +11 more
doaj +2 more sources
Frontiers in Pediatrics, 2021 Background: Leukodystrophies (LDs) are inherited heterogeneous conditions that affect the central nervous system with or without peripheral nerve involvement. They are individually rare, but collectively, they are common.
Majid Alfadhel +42 more
doaj +2 more sources
POLR3-Related Leukodystrophy: Exploring Potential Therapeutic Approaches
Frontiers in Cellular Neuroscience, 2021 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 early death. Hypomyelinating leukodystrophies are characterized by the
Stefanie Perrier +8 more
doaj +2 more sources
Recognizing early MRI signs (or their absence) is crucial in diagnosing metachromatic leukodystrophy
Annals of Clinical and Translational Neurology, 2022 Metachromatic leukodystrophy (MLD) has characteristic white matter (WM) changes on brain MRI, which often trigger biochemical and genetic confirmation of the diagnosis. In early or pre‐symptomatic disease stages, these typical MRI changes might be absent,
Daphne H. Schoenmakers +7 more
semanticscholar +1 more source
Variants in the zinc transporter TMEM163 cause a hypomyelinating leukodystrophy.
Brain : a journal of neurology, 2022 Hypomyelinating leukodystrophies comprise a subclass of genetic disorders with deficient myelination of the central nervous system (CNS) white matter.
Michelle C. do Rosario +17 more
semanticscholar +1 more source
Journal of Human Genetics, 2021 Hypomyelinating leukodystrophies (HLDs) are a rare group of disorders characterized by myelin deficit of the brain-based on MRI. Here, we studied 20 patients with unexplained HLD to uncover their genetic etiology through whole-exome sequencing (WES ...
Huifang Yan +19 more
semanticscholar +1 more source
Complicated Spastic Paraparesis: Study of a Patient With a De Novo Pathogenic Variant in ELOVL1. [PDF]
Int J Dev NeurosciA de novo ELOVL1 variant causes syndromic spastic paraparesis with congenital ichthyosis, cerebellar signs and white matter abnormalities. Long‐term clinical and MRI follow‐up showed mild motor and neuroradiological progression with preserved intelligence and subtle cognitive efficiency decline, supporting the hypothesis of a primary neuronal disease ...
Vaia Y +11 more
europepmc +2 more sources
Neurofilament light chain and glial fibrillary acidic protein levels in metachromatic leukodystrophy
Brain : a journal of neurology, 2021 Metachromatic leukodystrophy is a lethal metabolic leukodystrophy, with emerging treatments for early disease stages. Biomarkers to measure disease activity are required for clinical assessment and treatment follow-up.
Shanice Beerepoot +10 more
semanticscholar +1 more source
Mechanisms of demyelination and neurodegeneration in globoid cell leukodystrophy
Glia, 2021 Globoid cell leukodystrophy (GLD), also known as Krabbe disease, is a lysosomal storage disorder causing extensive demyelination in the central and peripheral nervous systems.
M. Feltri +5 more
semanticscholar +1 more source
Metachromatic Leukodystrophy: Diagnosis, Modeling, and Treatment Approaches
Frontiers in Medicine, 2020 Metachromatic leukodystrophy is a lysosomal storage disease, which is characterized by damage of the myelin sheath that covers most of nerve fibers of the central and peripheral nervous systems.
A. Shaimardanova +6 more
semanticscholar +1 more source