Results 11 to 20 of about 774,994 (289)

Role of Speech–Language Pathologist in Rehabilitation in an Individual with Dysarthria in Medically Diagnosed Case of Alexander Disease – A Single Case Report

Journal of Integrated Health Sciences, 2023
Alexander disease is a rare nervous system disorder resulting from GFAP gene mutation, cause dysarthria in children to adults. A comprehensive language and speech including voice, articulation, and speech intelligibility assessment were carried out ...
Sarita Rautara, Himanshu Kant
doaj   +1 more source

A Case Report of Adult-Onset Alexander Disease with a Tumor-Like Lesion in the Lateral Ventricle

Case Reports in Neurology, 2021
Adult-onset Alexander disease (AOAD) is an autosomal dominant progressive astrogliopathy caused by pathogenic variants in glial fibrillary acidic protein (GFAP).
Tongjia Cai, Sisi Jing, Ying Li, Jianjun Wu   +3 more
doaj   +1 more source

GFAP variant p. Tyr366Cys demonstrated widespread brain cavitation in neonatal Alexander disease.

Radiology Case Reports, 2022
Alexander disease is a rare form of leukodystrophy caused by heterozygous mutations in the gene encoding glial fibrillary acidic protein (GFAP). Brain cavitation in the white matter, predominantly distributed in the frontal periventricular area, has been
Hirokazu Takeuchi, MD, Norimichi Higurashi, MD, PhD, Hiroshi Kawame, MD, PhD, Tadashi Kaname, MD, PhD, Kumiko Yanagi, DDSc, PhD, Yuichiro Nonaka, MD, PhD, Tatsuya Hirotsu, MD, Satoshi Matsushima, MD, PhD, Tetsuya Shimizu, MD, PhD, Taku Gomi, MD, Nei Fukasawa, MD   +10 more
doaj   +1 more source

SARS-CoV-2-Seronegative Subjects Target CTL Epitopes in the SARS-CoV-2 Nucleoprotein Cross-Reactive to Common Cold Coronaviruses

Frontiers in Immunology, 2021
The beta-coronavirus SARS-CoV-2 induces severe disease (COVID-19) mainly in elderly persons with risk factors, whereas the majority of patients experience a mild course of infection.
Katja G. Schmidt, Krystelle Nganou-Makamdop, Matthias Tenbusch, Boutaina El Kenz, Boutaina El Kenz, Clara Maier, Dennis Lapuente, Klaus Überla, Bernd Spriewald, Silke Bergmann, Ellen G. Harrer, Thomas Harrer   +11 more
doaj   +1 more source

Superoxide Radical Dismutation as New Therapeutic Strategy in Parkinson’s Disease [PDF]

, 2017
open4siAging is the biggest risk factor for developing many neurodegenerative disorders, including idiopathic Parkinson's disease (PD). PD is still an incurable disorder and the available medications are mainly directed to the treatment of symptoms in ...

core   +1 more source

Neuroimaging Features of Type II Alexander Disease

Pediatric Neurology Briefs, 2014
Investigators from Mayo Clinic, Rochester, MN, retrospectively identified 13 patients with type II Alexander disease (AxD) evaluated from Jan 1996 to Feb 2012.
J Gordon Millichap, John J Millichap
doaj   +1 more source

Applications of neuroimaging to disease-modification trials in Alzheimer's disease. [PDF]

, 2009
Critical to development of new therapies for Alzheimer's disease (AD) is the ability to detect clinical or pathological change over time. Clinical outcome measures typically used in therapeutic trials have unfortunately proven to be relatively variable ...
Aisen, Paul S, Alzheimer's Disease Neuroimaging Initiative, Brewer, James B, Chen, Kewei, Donohue, Michael, Fleisher, Adam S   +5 more
core   +2 more sources

Alexander disease GFAP R239C mutant shows increased susceptibility to lipoxidation and elicits mitochondrial dysfunction and oxidative stress

Redox Biology, 2022
Alexander disease is a fatal neurological disorder caused by mutations in the intermediate filament protein Glial Fibrillary Acidic Protein (GFAP), which is key for astrocyte homeostasis.
Álvaro Viedma-Poyatos, Patricia González-Jiménez, María A. Pajares, Dolores Pérez-Sala   +3 more
doaj   +1 more source

Parental Somatic Mosaicism Uncovers Inheritance of an Apparently De Novo GFAP Mutation

Frontiers in Genetics, 2021
Alexander disease is a leukodystrophy caused by heterozygous mutations of GFAP gene. Recurrence in siblings from healthy parents provides a confirmation to the transmission of variants through germinal mosaicism.
Alice Grossi, Federico Morelli, Marco Di Duca, Francesco Caroli, Isabella Moroni, Davide Tonduti, Tiziana Bachetti, Tiziana Bachetti, Isabella Ceccherini   +8 more
doaj   +1 more source

Association between cognitive performance and cortical glucose metabolism in patients with mild Alzheimer's disease [PDF]

, 2005
Background: Neuronal and synaptic function in Alzheimer's disease (AD) is measured in vivo by glucose metabolism using positron emission tomography (PET). Objective: We hypothesized that neuronal activation as measured by PET is a more sensitive index of
A. Drzezga, A.L.W. Bokde, Baron JC, C. Born, Collins DL, G. Leinsinger, H. Hampel, H.-J. Moeller, Herholz K, Herscovitch P, Ibanez V, Ishii K, J. Thissen, Jueptner M, M. Schwaiger, McKhann G, Meltzer CC, Meltzer CC, Mentis MJ, Mentis MJ, P. Bartenstein, Pietrini P, Pietrini P, Pietrini P, Rapoport SI, S.J. Teipel, Sokoloff L, W. Dong   +27 more
core   +1 more source