Results 41 to 50 of about 16,959 (263)
Adult-onset leukodystrophies: a practical guide, recent treatment updates, and future directions
Frontiers in Neurology, 2023 Adult-onset leukodystrophies though individually rare are not uncommon. This group includes several disorders with isolated adult presentations, as well as several childhood leukodystrophies with attenuated phenotypes that present at a later age ...
Karthik Muthusamy +9 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 +23 more
semanticscholar +1 more source
Human Mutation, 2020 LARS2 variants are associated with Perrault syndrome, characterized by premature ovarian failure and hearing loss, and with an infantile lethal multisystem disorder: Hydrops, lactic acidosis, sideroblastic anemia (HLASA) in one individual.
L. Riley +19 more
semanticscholar +1 more source
A New Case of Autosomal-Dominant POLR3B-Related Disorder: Widening Genotypic and Phenotypic Spectrum
Brain Sciences, 2023 POLR3B encodes the RPC2 subunit of RNA polymerase III. Pathogenic variants are associated with biallelic hypomyelinating leukodystrophy belonging to the POLR-related disorders.
Vito Luigi Colona +7 more
doaj +1 more source
, 2019 Leukodystrophies are genetically determined disorders affecting the white matter of the central nervous system. The combination of MRI pattern recognition and next-generation sequencing for the definition of novel disease entities has recently demonstrated that many leukodystrophies are due to the primary involvement and/or mutations in genes ...
Jorge, M. S., Bugiani, Marianna
openaire +4 more sources
LMNB1 duplication-mediated autosomal dominant adult-onset leukodystrophy in an Indian family
Annals of Indian Academy of Neurology, 2021 Autosomal dominant leukodystrophy is an adult onset neurodegenerative disorder presenting with progressive symptoms of ataxia and autonomic dysfunction in fourth or fifth decade in life.
Sunita Bijarnia-Mahay +4 more
doaj +1 more source
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 +13 more
semanticscholar +1 more source
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 +8 more
semanticscholar +1 more source
Case report: ‘AARS2 leukodystrophy’
Molecular Genetics and Metabolism Reports, 2021 Background: Mitochondrial alanyl-tRNA synthetase 2 gene (AARS2) related disease is a rare genetic disorder affecting mitochondrial metabolism, leading to severe cardiac disease in infants or progressive leukodystrophy in young adults.
Tobias Melton Axelsen +5 more
doaj
Glia, 2019 X‐linked adrenoleukodystrophy (X‐ALD) and metachromatic leukodystrophy (MLD) are two relatively common examples of hereditary demyelinating diseases caused by a dysfunction of peroxisomal or lysosomal lipid degradation.
C. Bergner +13 more
semanticscholar +1 more source