Alexander disease
A Messing - Handbook of clinical neurology, 2018 - Elsevier
Alexander disease is a rare and generally fatal disorder of the central nervous system,
originally defined by the distinctive neuropathology consisting of abundant Rosenthal fibers …
originally defined by the distinctive neuropathology consisting of abundant Rosenthal fibers …
[HTML][HTML] Canavan disease as a model for gene therapy-mediated myelin repair
A Lotun, DJ Gessler, G Gao - Frontiers in Cellular Neuroscience, 2021 - frontiersin.org
In recent years, the scientific and therapeutic fields for rare, genetic central nervous system
(CNS) diseases such as leukodystrophies, or white matter disorders, have expanded …
(CNS) diseases such as leukodystrophies, or white matter disorders, have expanded …
[HTML][HTML] Leukodystrophy with Macrocephaly, Refractory Epilepsy, and Severe Hyponatremia—The Neonatal Type of Alexander Disease
J Paprocka, M Nowak, M Machnikowska-Sokołowska… - Genes, 2024 - mdpi.com
Introduction: Alexander disease (AxD) is a rare neurodegenerative condition that represents
the group of leukodystrophies. The disease is caused by GFAP mutation. Symptoms usually …
the group of leukodystrophies. The disease is caused by GFAP mutation. Symptoms usually …
[HTML][HTML] A Novel Mutation of GFAP Causing Adult-Onset Alexander Disease
Alexander disease (AxD) is a rare, autosomal dominant neurological disorder. Three clinical
subtypes are distinguished based on age at onset: infantile (0–2 years), juvenile (2–13 …
subtypes are distinguished based on age at onset: infantile (0–2 years), juvenile (2–13 …
[HTML][HTML] The role of magnetic resonance imaging in the diagnostic work-up of fetal ventriculomegaly
L Cardoen, L De Catte, P Demaerel… - Facts, Views & Vision …, 2011 - ncbi.nlm.nih.gov
The indication for fetal magnetic resonance imaging (MRI) remains a subject of debate,
partly because of questions concerning its diagnostic accuracy compared to ultrasound …
partly because of questions concerning its diagnostic accuracy compared to ultrasound …
GFAP variants leading to infantile Alexander disease: Phenotype and genotype analysis of 135 cases and report of a de novo variant
K Heshmatzad, MH Panah, AR Tavasoli… - Clinical Neurology and …, 2021 - Elsevier
Abstract Objectives Alexander disease (AxD) is a rare autosomal dominant disorder due to
GFAP mutations; infantile AxD is the most common severe form which usually results in …
GFAP mutations; infantile AxD is the most common severe form which usually results in …
Alexander disease: a leukodystrophy that may mimic brain tumor
A Tavasoli, T Armangue, CY Ho… - Journal of child …, 2017 - journals.sagepub.com
Alexander disease is a leukodystrophy caused by dominant missense mutations in the gene
encoding the glial fibrillary acidic protein. Individuals with this disorder often present with a …
encoding the glial fibrillary acidic protein. Individuals with this disorder often present with a …
Neonatal Alexander disease: Novel GFAP mutation and comparison to previously published cases
O Knuutinen, M Kousi, M Suo-Palosaari… - …, 2018 - thieme-connect.com
Alexander disease (AxD) is a genetic leukodystrophy caused by GFAP mutations leading to
astrocyte dysfunction. Neonatal AxD is a rare phenotype with onset in the first month of life …
astrocyte dysfunction. Neonatal AxD is a rare phenotype with onset in the first month of life …
Fetal-onset Alexander disease with radiological-neuropathological correlation
J Devos, K Devriendt, J Richter, K Jansen… - Pediatric …, 2023 - Springer
Alexander disease is a leukodystrophy caused by mutations in the GFAP gene, primarily
affecting the astrocytes. This report describes the prenatal and post-mortem neuroimaging …
affecting the astrocytes. This report describes the prenatal and post-mortem neuroimaging …
Alexander's disease: reassessment of a neonatal form
Introduction Alexander disease is a disorder caused by a mutation and accumulation of the
glial fibrillary acidic protein. Currently, three subtypes are acknowledged: an infantile, a …
glial fibrillary acidic protein. Currently, three subtypes are acknowledged: an infantile, a …