Results 61 to 70 of about 24,692 (277)

Biallelic variants in LARS2 and KARS cause deafness and (ovario)leukodystrophy

Neurology, 2017
Objective: To determine the incidence rates of sudden unexpected death in epilepsy (SUDEP) in different epilepsy populations and address the question of whether risk factors for SUDEP have been identified. Methods: Systematic review of evidence; modified
C. Harden, T. Tomson, D. Gloss, J. Buchhalter, J. Cross, E. Donner, J. French, A. Gil-Nagel, D. Hesdorffer, W. Smithson, M. Spitz, T. Walczak, Josemir W Sander, P. Ryvlin   +13 more
semanticscholar   +1 more source

Endocrine Aspects of 4H Leukodystrophy: A Case Report and Review of the Literature

Case Reports in Endocrinology, 2015
Introduction. 4H leukodystrophy is an autosomal recessive RNA polymerase III-related leukodystrophy, characterized by hypomyelination, with or without hypodontia (or other dental abnormalities) and hypogonadotropic hypogonadism. Case Presentation.
Emma Billington, Geneviève Bernard, William Gibson, Bernard Corenblum   +3 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

Expanding the phenotypic and molecular spectrum of RNA polymerase III–related leukodystrophy

Neurology: Genetics, 2020
Objective To expand the phenotypic spectrum of severity of POLR3-related leukodystrophy and identify genotype-phenotype correlations through study of patients with extremely severe phenotypes.
S. Perrier, L. Gauquelin, C. Fallet-Bianco, M. Dishop, Mackenzie A. Michell-Robinson, L. Tran, K. Guerrero, Lama Darbelli, M. Srour, K. Petrecca, D. Renaud, M. Saito, Seth Cohen, S. Leiz, B. Alhaddad, T. Haack, Ingrid Tejera-Martin, F. Monton, N. Rodríguez-Espinosa, D. Pohl, Savithri Nageswaran, A. Grefe, E. Glamuzina, G. Bernard   +23 more
semanticscholar   +1 more source

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

Fluid and Neuroimaging Biomarkers in Microgliopathy Colony‐Stimulating Factor‐1 Receptor‐Related Disorders

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective This study aims to identify both fluid and neuroimaging biomarkers for CSF1R‐RD that can inform the optimal timing of treatment administration to maximize therapeutic benefit, while also providing sensitive quantitative measurements to monitor disease progression.
Tomasz Chmiela, Madison Reeves, Karen Jansen‐West, Judith Dunmore, Yuping Song, Audrey Strongosky, Sunil Gandhi, Gilana Pikover, Matt Blurton‐Jones, Robert C. Spitale, Erik H. Middlebrooks, Leonard Petrucelli, Mercedes Prudencio, Zbigniew K. Wszolek   +13 more
wiley   +1 more source

TREX1 is expressed by microglia in normal human brain and increases in regions affected by ischemia [PDF]

, 2018
BACKGROUND: Mutations in the three-prime repair exonuclease 1 (TREX1) gene have been associated with neurological diseases, including Retinal Vasculopathy with Cerebral Leukoencephalopathy (RVCL).
Atkinson, John P, Bertram, Paula, Hajj-Ali, Rula, Jen, Joanna C, Kolar, Grant R, Kothari, Parul H, Schmidt, Robert E   +6 more
core   +3 more sources

Impairment of Proteasome and Autophagy Underlying the Pathogenesis of Leukodystrophy

Cells, 2020
Impairment of the ubiquitin-proteasome-system (UPS) and autophagy causing cytoplasmic aggregation of ubiquitin andp62 have been implicated in the pathogenesis of most neurodegenerative disorders, yet, they have not been fully elucidated in ...
D. Lin, Che-Sheng Ho, Yu-Wen Huang, Tsu‐Yen Wu, Tsung-han Lee, Zongguang Huang, Tuan-Jen Wang, Shun-Jie Yang, M. Chiang   +8 more
semanticscholar   +1 more source

Anything is better than nothing’: exploring attitudes towards novel therapies in leukodystrophy clinical trials

Orphanet Journal of Rare Diseases
Background/Aim Leukodystrophies comprise a group of genetic white matter disorders that lead to progressive motor and cognitive impairment. Recent development of novel therapies has led to an increase in clinical trials for leukodystrophies.
Ella Wilson, Richard Leventer, Chloe Cunningham, Michelle G. de Silva, Jan Hodgson, Eloise Uebergang   +5 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