Results 41 to 50 of about 13,979 (223)

A homozygous mutation of alanyl‐transfer RNA synthetase 2 in a patient of adult‐onset leukodystrophy: A case report and literature review

Brain and Behavior, 2019
Introduction Leukodystrophy is a group of hereditary leukoencephalopathies predominantly affecting the white matter. Multiple genes and mutations have been reported to be associated with this disorder.
Jian‐Yong Wang, Song‐Fang Chen, Hong‐Qiu Zhang, Meng‐Yan Wang, Jian‐Hong Zhu, Xiong Zhang   +5 more
doaj   +1 more source

Human Glial Progenitor Cells Effectively Remyelinate the Demyelinated Adult Brain

Cell Reports, 2020
Summary: Neonatally transplanted human glial progenitor cells (hGPCs) can myelinate the brains of myelin-deficient shiverer mice, rescuing their phenotype and survival.
Martha S. Windrem, Steven J. Schanz, Lisa Zou, Devin Chandler-Militello, Nicholas J. Kuypers, Maiken Nedergaard, Yuan Lu, John N. Mariani, Steven A. Goldman   +8 more
doaj   +1 more source

Case Report: Severe Osteoporosis and Preventive Therapy in RNA Polymerase III-Related Leukodystrophy

Frontiers in Neurology, 2021
RNA polymerase III (POLR3)-related leukodystrophy is an autosomal recessive form of leukodystrophy caused by homozygous or compound heterozygous mutations of the RNA polymerase III subunit genes, including subunit A (POLR3A).
Soma Furukawa, Soma Furukawa, Misako Kunii, Hiroshi Doi, Naohide Kondo, Naohide Kondo, Naohide Kondo, Aya Ogura, Aya Ogura, Koichi Hirabuki, Takayuki Itoh, Naomichi Matsumoto, Fumiaki Tanaka, Masahisa Katsuno, Yasuhiro Ito   +14 more
doaj   +1 more source

Posterior Disconnection Syndrome in Early‐Stage Adult‐Onset Cerebral Adrenoleukodystrophy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Adult‐onset cerebral adrenoleukodystrophy is potentially treatable but often difficult to recognize before advanced cerebral involvement. Herein, we describe three men with early‐stage disease who initially presented with subtle visual complaints rather than subcortical dementia. Targeted neuropsychological testing revealed higher‐order visual
Kazuto Katsuse, Takashi Matsukawa, Yumiko Nakamura, Kazuo Kakinuma, Shoko Ota, Ryo Hara, Saki Nakashima, Kaoru Ito, Yutaro Nakamori, Toshiyuki Kakumoto, Masashi Hamada, Shigenori Kanno, Kyoko Suzuki, Tatsushi Toda   +13 more
wiley   +1 more source

Neurological, Neurodevelopmental and Treatment Outcomes in Patients With Pyruvate Dehydrogenase Complex Deficiency

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The aim of this study was to characterize intellectual and motor function, neurological features including epilepsy, treatment response, and adaptive behavior in patients with pyruvate dehydrogenase complex deficiency (PDCD) in Sweden.
Antri Savvidou, Colin Reilly, Kalliopi Sofou, Sofia Ygberg, Erik A. Eklund, Karin Naess, Niklas Darin   +6 more
wiley   +1 more source

An overview of Leukodystrophy (LD) [PDF]

, 2014
How to Cite this Article: Ghofrani M. An overview of Leukodystrophy (LD). Iran J Child Neurol. Autumn 2014; 8:4(suppl. 1):1-2.
GHOFRANI, Mohammad
core   +1 more source

The E3 Ubiquitin Ligase RLIM Safeguards Oligodendrocyte Development and Myelination by Targeting SLC7A11 for Polyubiquitination to Regulate Ferroptotic Resistance

Advanced Science, EarlyView.
RLIM‐mediated SLC7A11 polyubiquitination is required for SPTBN2‐mediated trafficking and membrane localization of SLC7A11, which enables oligodendrocyte precursor cells to be resistant to ferroptosis and safeguards oligodendrocyte lineage progression and thus myelination.
Yuwei Li, Haijun Zhang, Jieya Zhou, Shiyu Yang, Jingmei Cha, Gaofeng Yan, Shuhua Zhao, Bingyu Mao, Pengcheng Ma   +8 more
wiley   +1 more source

Accumulation of lysosulfatide in the brain of arylsulfatase A-deficient mice

Lipids in Health and Disease, 2011
Lysosomal storage diseases are a group of disorders where accumulation of catabolites is manifested in the lysosomes of different cell types. In metachromatic leukodystrophy (Arylsulfatase A [EC.3.1.6.8] deficiency) storage of the glycosphingolipid ...
Månsson Jan-Eric, Gieselmann Volkmar, Blomqvist Maria   +2 more
doaj   +1 more source

A Chinese patient with POLR3A-related leukodystrophy: a case report and literature review

Frontiers in Neurology, 2023
BackgroundLeukodystrophies are hereditary white matter diseases characterized by genetic polymorphisms and considerable phenotypic variability. They can be classified into myelin and non-myelin malformations.
Lei Sun, Weihong Lin, Hongmei Meng, Wuqiong Zhang, Shuai Hou   +4 more
doaj   +1 more source

Immune Modulatory Therapy for Severe Dengue Hemorrhagic Fever in a Patient With Mitochondrial Complex I Deficiency: A Case Report

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Dengue virus (DENV) poses a serious global health challenge, particularly in cases of dengue hemorrhagic fever (DHF). Patients with preexisting mitochondrial disorders may be at increased risk for complications due to the specific impact of DENV on mitochondrial‐dependent cellular processes and immune function.
Audra N. Iness, Ameya S. Walimbe, Emily R. Strouphauer, Michio Hirano, Alejandro D. Iglesias, Valentina Emmanuele, Caitlin C. Griffin, Sheldon L. Kaplan, William A. Gomes, Karen K. Moeller, Stephen F. Kralik, Fernando Scaglia   +11 more
wiley   +1 more source