Journal of the Belgian Society of Radiology, 2021 Main teaching point: The main differential diagnosis of leukodystrophy associated with macrocephaly consists of Alexander disease, Canavan disease, and megalencephalic leukodystrophy with subcortical cysts.
Laura Hartog +2 more
doaj +7 more sources
Mitochondrial complex I deficiency masquerading as stroke-like episode clinically and as alexander disease radiologically following chicken pox [PDF]
Annals of Indian Academy of Neurology, 2023 Mitochondrial disorders are a group of metabolic disorders with variable presentation and usually affect organs with high energy requirements like the brain, eye, and heart.
Vykuntaraju K Gowda +4 more
doaj +2 more sources
Characteristic MR Imaging Features and Serial Changes in Adult-Onset Alexander Disease: A Case Report [PDF]
Journal of the Korean Society of Radiology, 2023 Adult-onset Alexander Disease (AOAD) is a rare genetically determined leukoencephalopathy that presents with ataxia, spastic paraparesis, or brain stem signs including speech abnormalities, swallowing difficulties, and frequent vomiting.
Ha Yun Oh +4 more
doaj +2 more sources
GFAP variant p. Tyr366Cys demonstrated widespread brain cavitation in neonatal Alexander disease. [PDF]
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 +10 more
doaj +2 more sources
Alexander disease: the road ahead. [PDF]
Neural Regen Res, 2023 Alexander disease is a rare neurodegenerative disorder caused by mutations in the glial fibrillary acidic protein, a type III intermediate filament protein expressed in astrocytes. Both early (infantile or juvenile) and adult onsets of the disease are known and, in both cases, astrocytes present characteristic aggregates, named Rosenthal fibers ...
Pajares MA +3 more
europepmc +3 more sources
Psychiatric Onset Alexander Disease: An Important Challenge in Neuropsychiatric Diagnosis: A Case Report [PDF]
Basic and Clinical Neuroscience, 2022 Introduction: Alexander disease is a heterogeneous group of diseases with various manifestations based on the age of disease onset. This rare leukodystrophy syndrome with mutations in the GFAP gene could present with developmental delay and seizure in ...
Hedieh Arshiany +4 more
doaj +2 more sources
Diagnostic features of type II fibrinoid leukodystrophy (Alexander disease) in a juvenile Beagle dog [PDF]
Journal of Veterinary Internal Medicine, 2023 A 3‐month‐old female entire Beagle presented with a progressive history of caudotentorial encephalopathy. Reactive encephalopathies were ruled out and tests for the most common infectious diseases agents were negative.
Hélène Vandenberghe +6 more
doaj +2 more sources
Response to amoxicillin and perampanel in infantile Alexander disease [PDF]
Epilepsia OpenType I Alexander disease (AxD) presents with paroxysmal neurodegeneration, refractory epilepsy, and encephalopathy in the first years of life and is associated with a poor prognosis.
Susana Boronat +6 more
doaj +2 more sources
External laryngeal tremor in adult-onset Alexander disease [PDF]
Case Reports in NeurologyIntroduction. Alexander disease is caused by mutations in GFAP, the glial fibrillary acidic protein gene. External laryngeal tremor has not been reported in adult-onset Alexander disease (AOAxD). The aims of this work were to report one such case, and to
José Gazulla +3 more
doaj +2 more sources
Diagnosing Alexander disease in adults. [PDF]
Pract NeurolAlexander disease is a rare, genetic and ultimately fatal neurological disorder that arises from pathogenic variants in the glial fibrillary acidic protein ( GFAP ) gene. Its presenting symptoms often differ according to age at onset.
Lynch DS +7 more
europepmc +3 more sources