Genetic spectrum and clinical features of adult leukoencephalopathies in a Chinese cohort. [PDF]
Ann Clin Transl Neurol, 2023 Objective Leukoencephalopathies are a group of heterogeneous disorders characterized by the degeneration of white matter, resulting in a variety of progressive neurological symptoms.
Liu M +7 more
europepmc +2 more sources
When exome analysis is the key for your patient with cognitive decline: a case report. [PDF]
Dement NeuropsycholVanishing white matter (VWM) disease is a leukodystrophy caused by mutations in EIF2B1–5 genes, which impair cellular stress responses and protein synthesis regulation, leading to astrocytic dysfunction and white matter degeneration.
Mendes AA +6 more
europepmc +3 more sources
An atypical initial revelation of CACH-vanishing white matter syndrome miming herpetic encephalitis in a 6-year-old child: Case report and brief review. [PDF]
Radiol Case RepWhite matter vanishing syndrome (WMS) is one of the most common hereditary leukoencephalopathies, affecting all ages, including newborns and adults.
Mohammed C +9 more
europepmc +2 more sources
The landscape of pediatric genetic white matter disorders at a tertiary referral hospital in Upper Egypt and the report of 31 novel variants. [PDF]
Ital J PediatrBackground Leukodystrophies (LDs) and genetic leukoencephalopathies (GLEs) encompass the spectrum of genetic white matter disorders (GWMDs). Despite their clinical significance, limited studies have investigated GWMDs in Egypt.
Noureldeen MM +4 more
europepmc +2 more sources
PET Beta-Amyloid Tracer Uptake in Leukoencephalopathies: Comparing Metachromatic Leukodystrophy and CADASIL. [PDF]
Eur J NeurolBenzoni C +4 more
europepmc +2 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
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
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
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