Results 31 to 40 of about 16,484,276 (296)

Juvenile form of alexander disease caused by a previously undescribed mutation in the GFAP gene. a case report

Русский журнал детской неврологии, 2021
Alexander disease is a form of leukoencephalopathy caused by mutations in the GFAP gene. There are three forms of the disease: infant, juvenile and adult.
A. I. Pavljuchkova, A. S. Kotov
doaj   +1 more source

Anastasis Drives Senescence and Non-Cell Autonomous Neurodegeneration in the Astrogliopathy Alexander Disease. [PDF]

J Neurosci, 2022
Anastasis is a recently described process in which cells recover after late-stage apoptosis activation. The functional consequences of anastasis for cells and tissues are not clearly understood.
Wang L, Bukhari H, Kong L, Hagemann TL, Zhang SC, Messing A, Feany MB.   +6 more
europepmc   +2 more sources

Anesthetic Management of a Patient with Type II Alexander Disease: A Case Report

Soonchunhyang Medical Science, 2023
Patients with type II Alexander disease have white matter dysplasia, which may cause various symptoms due to nerve conduction impairment. When providing anesthesia to a patient with Alexander disease, careful and patient-specific individualized risk ...
Y. Yoon, J. Yeom
semanticscholar   +1 more source

Does genetic anticipation occur in familial Alexander disease? [PDF]

Neurogenetics, 2021
Alexander Disease (AxD) is a rare leukodystrophy caused by missense mutations of glial fibrillary acidic protein (GFAP). Primarily seen in infants and juveniles, it can present in adulthood.
Hunt CK, Al Khleifat A, Burchill E, Ederle J, Al-Chalabi A, Sreedharan J.   +5 more
europepmc   +2 more sources

Antisense therapy in a rat model of Alexander disease reverses GFAP pathology, white matter deficits, and motor impairment

Science Translational Medicine, 2021
Description Gfap-antisense prevents disease with early treatment and reverses clinical phenotypes with late treatment in a rat model of Alexander disease.
Tracy L. Hagemann, Berit E. Powers, Ni-Hsuan Lin, A. Mohamed, Katerina L Dague, Seth C. Hannah, Gemma Bachmann, C. Mazur, F. Rigo, Abby L. Olsen, M. Feany, M. Perng, R. Berman, A. Messing   +13 more
semanticscholar   +1 more source

Neuropsychological Functioning in Alexander Disease: A Case Series. [PDF]

Child Neurol Open, 2021
Limited information is known about neuropsychological outcomes in Alexander disease, a rare leukodystrophy. Two pediatric cases are summarized. Case 1 (evaluations at 6, 7, 9, and 12 years of age) represents Type I Alexander disease with associated ...
Kirsch AC, McCall DM, Lange H, Renaud D, Brown T, Zaccariello MJ.   +5 more
europepmc   +2 more sources

Visualizing the phenotype diversity: a case study of Alexander disease. [PDF]

Genomics Inform, 2021
Since only a small number of patients have a rare disease, it is difficult to identify all of the features of these diseases. This is especially true for patients uncommonly presenting with rare diseases.
Dohi E, Bangash AH.
europepmc   +2 more sources

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