Results 21 to 30 of about 16,484,276 (296)

Effects of Alexander disease-associated mutations on the assembly and organization of GFAP intermediate filaments. [PDF]

Mol Biol Cell, 2022
Alexander disease is a primary genetic disorder of astrocytes caused by dominant mutations in the gene encoding glial fibrillary acidic protein (GFAP).
Yang AW, Lin NH, Yeh TH, Snider N, Perng MD.   +4 more
europepmc   +2 more sources

Glial fibrillary acidic protein is pathologically modified in Alexander disease. [PDF]

J Biol Chem
Lin NH, Jian WS, Snider N, Perng MD.
europepmc   +2 more sources

Leukodystrophy with Macrocephaly, Refractory Epilepsy, and Severe Hyponatremia-The Neonatal Type of Alexander Disease. [PDF]

Genes (Basel)
Introduction: Alexander disease (AxD) is a rare neurodegenerative condition that represents the group of leukodystrophies. The disease is caused by GFAP mutation. Symptoms usually occur in the infantile age with macrocephaly, developmental deterioration,
Paprocka J, Nowak M, Machnikowska-Sokołowska M, Rutkowska K, Płoski R.   +4 more
europepmc   +2 more sources

Identification of association fibers using ex vivo diffusion tractography in Alexander disease brains. [PDF]

J Neuroimaging, 2022
Alexander disease (AxD) is a neurodegenerative disorder caused by heterozygous Glial Fibrillary Acidic Protein mutation. The characteristic structural findings of AxD, such as leukodystrophic features, are well known, while association fibers of AxD ...
Shiohama T, Stewart N, Nangaku M, van der Kouwe AJW, Takahashi E.   +4 more
europepmc   +2 more sources

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

Alexander disease: models, mechanisms, and medicine. [PDF]

Curr Opin Neurobiol, 2022
Hagemann TL.
europepmc   +2 more sources

The main forms of leukodystrophies. Lecture and clinical cases

Русский журнал детской неврологии, 2023
Leukodystrophies are genetically determined diseases characterised by primary damage to the white matter of the central nervous system, irrespective of the genetic defect and structural component involved.
A. A. Ershova, A. S. Kotov
doaj   +1 more source

Microglia sense astrocyte dysfunction and prevent disease progression in an Alexander disease model. [PDF]

Brain, 2023
Alexander disease (AxD) is an intractable neurodegenerative disorder caused by GFAP mutations. It is a primary astrocyte disease with a pathological hallmark of Rosenthal fibres within astrocytes. AxD astrocytes show several abnormal phenotypes.
Saito K, Shigetomi E, Shinozaki Y, Kobayashi K, Parajuli B, Kubota Y, Sakai K, Miyakawa M, Horiuchi H, Nabekura J, Koizumi S.   +10 more
europepmc   +2 more sources

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

Adult-Onset Alexander Disease: New Causal Sequence Variant in the GFAP Gene. [PDF]

Neurol Genet, 2022
Objectives Alexander disease (AD) is a rare disorder of the CNS. Diagnosis is based on clinical symptoms, typical MRI findings, and mutations in the glial fibrillary acid protein (GFAP) gene.
Goerttler T, Zanetti L, Regoni M, Egger K, Kellner E, Deuschl C, Kleinschnitz C, Sassone J, Klebe S.   +8 more
europepmc   +2 more sources