Results 1 to 10 of about 9,985 (202)

MRI findings of hypomyelination in adenylosuccinate lyase deficiency

Radiology Case Reports, 2019
Adenylosuccinate lyase deficiency is a rare genetic disorder with few reported cases in the United States. Magnetic resonance imaging findings in the brain include hypomyelination and low generalized parenchymal volume.
Kevin Wong, Jeffrey H Miller, Cory Pfeifer   +2 more
exaly   +4 more sources

Novel LAMA1 Mutations in a Pedigree With Poretti‐Boltshauser Syndrome: Implications for Hypomyelination [PDF]

Molecular Genetics & Genomic Medicine
Background Poretti‐Boltshauser syndrome (PBS) is an autosomal recessive disorder caused by biallelic pathogenic variants in the LAMA1 gene, typically presenting with cerebellar dysplasia and fourth ventricle abnormalities.
Si Huang, Yiyang Li, Jing Xin, Wenhui Mo, Xiuwen Lin, Bingbin Mai, Junbin He, Xiaoli Zhong, Jiaxin Xu   +8 more
doaj   +2 more sources

Spatial lipidomics reveals altered lipid profiles in TMEM63A mutant rats with hypomyelination [PDF]

Scientific Reports
Hypomyelinating leukodystrophies (HLDs) are genetic disorders characterized by deficient myelination. While TMEM63A variants are associated with HLD19, the specific lipid alterations in affected brain regions remain to be fully characterized.
Junyu Wang, Liang Wang, Yu Zhang, Kai Gao, Jiangxi Xiao, Lin Nie, Jihang Luo, Shiqi Yang, Ye Wu, Yuwu Jiang, Huifang Yan, Jingmin Wang   +11 more
doaj   +2 more sources

Identification of a Novel Missense Mutation of POLR3A Gene in a Cohort of Sicilian Patients with Leukodystrophy

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, Francesco Calì, Carmela Scuderi, Mirella Vinci, Girolamo Aurelio Vitello, Sebastiano Antonino Musumeci, Valeria Chiavetta, Concetta Federico, Greta Amore, Salvatore Saccone, Gabriella Di Rosa, Antonio Gennaro Nicotera   +11 more
doaj   +1 more source

Molecular Pathogenic Mechanisms of Hypomyelinating Leukodystrophies (HLDs)

Neurology International, 2023
Hypomyelinating leukodystrophies (HLDs) represent a group of congenital rare diseases for which the responsible genes have been identified in recent studies. In this review, we briefly describe the genetic/molecular mechanisms underlying the pathogenesis
Tomohiro Torii, Junji Yamauchi
doaj   +1 more source

Developmental delay and assessment in an infant with PCWH syndrome: A case report

Annals of Movement Disorders, 2023
Peripheral demyelinating polyneuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung’s disease is a rare genetic disorder caused by de novo variants in the SOX10 gene.
Ashna Kumar, Michelle do Rosario, Shahyan Siddiqui, Divyani Garg, Anju Shukla, Suvasini Sharma   +5 more
doaj   +1 more source

White Matter Injury in Preterm Infants: Pathogenesis and Potential Therapy From the Aspect of the Gut–Brain Axis

Frontiers in Neuroscience, 2022
Very preterm infants who survive are at high risk of white matter injury (WMI). With a greater understanding of the pathogenesis of WMI, the gut microbiota has recently drawn increasing attention in this field.
Yu He, Yu He, Yu He, Yuni Zhang, Yuni Zhang, Yuni Zhang, Fang Li, Fang Li, Fang Li, Yuan Shi, Yuan Shi, Yuan Shi   +11 more
doaj   +1 more source

Neonatal neuronal WWOX gene therapy rescues Wwox null phenotypes

EMBO Molecular Medicine, 2021
WW domain‐containing oxidoreductase (WWOX) is an emerging neural gene‐regulating homeostasis of the central nervous system. Germline biallelic mutations in WWOX cause WWOX‐related epileptic encephalopathy (WOREE) syndrome and spinocerebellar ataxia and ...
Srinivasarao Repudi, Irina Kustanovich, Sara Abu‐Swai, Shani Stern, Rami I Aqeilan   +4 more
doaj   +1 more source

Clemastine improves hypomyelination in rats with hypoxic–ischemic brain injury by reducing microglia-derived IL-1β via P38 signaling pathway

Journal of Neuroinflammation, 2020
Background Microglia activation is associated with the development of hypoxic–ischemic brain injury (HIBI). Neuroinflammation suppression might be a suitable therapeutic target in hypoxic oligodendrocyte injury.
Di Xie, Xiaoli Ge, Yanli Ma, Jialong Tang, Yang Wang, Yajie Zhu, Chengjin Gao, Shuming Pan   +7 more
doaj   +1 more source

Loss of ABCA8B decreases myelination by reducing oligodendrocyte precursor cells in mice

Journal of Lipid Research, 2022
The myelin sheath, which is wrapped around axons, is a lipid-enriched structure produced by mature oligodendrocytes. Disruption of the myelin sheath is observed in several neurological diseases, such as multiple sclerosis.
Yiran Liu, David Castano, Francesco Girolamo, Laia Trigueros-Motos, Han-Gyu Bae, Suat Peng Neo, Jeongah Oh, Pradeep Narayanaswamy, Federico Torta, Kerry Anne Rye, Dong-Gyu Jo, Jayantha Gunaratne, Sangyong Jung, Daniela Virgintino, Roshni R. Singaraja   +14 more
doaj   +1 more source