Results 1 to 10 of about 166 (149)
Mitochondrial Syndromes with Leukoencephalopathies [PDF]
Seminars in Neurology, 2012 White matter involvement has recently been recognized as a common feature in patients with multisystem mitochondrial disorders that may be caused by molecular defects in either the mitochondrial genome or the nuclear genes. It was first realized in classical mitochondrial syndromes associated with mitochondrial DNA (mtDNA) mutations, such as ...
Lee-Jun Wong
exaly +3 more sources
The role of diffusion-weighted MRI on the study of brain complications related to heroin abuse [PDF]
Reviews in Clinical Medicine, 2015 Heroin has physical effects on many parts of the body, for example, respiratory and digestive system, muscles, and nervous system. Neurologic complications include brain abscess, neuropathy, transverse myelitis, and leukoencephalopathy.Magnetic resonance
Yasamin Daoudi +2 more
doaj +3 more sources
Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Lactate Elevation (LBSL) Based on Typical MRI and MRS Findings: A Case Report [PDF]
International Journal of Scientific Research in Dental and Medical Sciences, 2022 Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation (LBSL) is a rare autosomal recessive disorder that has been known in recent years.
Mohammad Ali Sahraian +3 more
doaj +1 more source
Chinese Journal of Contemporary Neurology and Neurosurgery, 2021 Objective To investigate the clinicopathological features of central nervous system diffuse and multifocal lesions in the cerebral white matter. Methods The clinical and radiological data of 27 cases of diffuse and multifocal lesions in the cerebral ...
FU Yong⁃juan
doaj +1 more source
Genetic spectrum and clinical features of adult leukoencephalopathies in a Chinese cohort
Annals of Clinical and Translational Neurology, 2023 Objective Leukoencephalopathies are a group of heterogeneous disorders characterized by the degeneration of white matter, resulting in a variety of progressive neurological symptoms.
Minglei Liu +7 more
doaj +1 more source
Case report: A frameshift mutation in CLCN2-related leukoencephalopathy and retinopathy
Frontiers in Genetics, 2023 Background: Leukoencephalopathy and visual impairment have been linked to loss-of-function mutations in the CLCN2 gene (MIM #600570). However, the ocular features caused by the CLCN2 mutations remain poorly understood and seldom reported. This study aims
Yizhe Cheng +3 more
doaj +1 more source
Scientific Reports, 2021 This study evaluates the genetic spectrum of leukodystrophies and leukoencephalopathies in Iran. 152 children, aged from 1 day to 15 years, were genetically tested for leukodystrophies and leukoencephalopathies based on clinical and neuroradiological ...
Nejat Mahdieh +6 more
doaj +1 more source
Rare presentation of levamisole-induced leukoencephalopathy in a pediatric patient: seizure
The Turkish Journal of Pediatrics, 2021 Background. Levamisole is an imidazole derivative used in the treatment of various cancers, dermatological diseases, and parasitosis. Illegal use of levamisole by mixing it with cocaine in order to increase the psychotropic effects has also ...
Cem Paketçi +3 more
doaj +1 more source
Frontiers in Bioengineering and Biotechnology, 2022 Vanishing white matter disease (VWM) is one of the most common childhood inherited leukoencephalopathies with autosomal recessive inheritance. Mutations in five genes, EIF2B1-5, have been identified as the major cause of VWM.
Yun Tian +11 more
doaj +1 more source
Frontiers in Neurology, 2021 Leukodystrophies are a diverse group of genetic disorders that selectively involve the white matter of the brain and are a frequent cause of young-onset cognitive impairment. Genetic diagnosis is challenging.
Zhiyong Chen +13 more
doaj +1 more source