What are the defining neuroradiologic and clinical features of Alexander disease?
Alexander disease presentation varies markedly by subtype (infantile vs. juvenile vs. adult-onset per pubmed:14623218) — a fully complete answer should note subtype-dependence, not state one uniform phenotype.
Generation outcome
Gold documents (3)
- Alexander Disease.
- Alexander disease.
- Alexander Disease.
Retrieved documents (6)
- Adult-Onset Alexander Disease: New Causal Sequence Variant in the GFAP Gene.pubmed:35620133
- Juvenile Alexander Disease: A Rare Leukodystrophy.pubmed:35698668
- Alexander Disease.pubmed:28112050gold
- Clinical characteristics of Alexander disease.pubmed:32847470
- Alexander disease.pubmed:29478608gold
- Developmental Profiles in Children and Young Adults with Alexander Disease.pubmed:37149791
Generated claims (6)
Alexander disease is a primary astrocyte disease caused by GFAP gene mutation.
The clinical features of Alexander disease vary from infantile-onset cerebral white matter involvement to adult-onset brainstem involvement.
The defining neuroradiologic features of Alexander disease include white matter abnormalities with brainstem involvement, selective contrast enhancement, and structural changes to the basal ganglia/thalamus.
Alexander disease is characterized by the presence of Rosenthal fibers in astrocytes.
The disease is caused by mutations in the GFAP gene.
Clinical symptoms of Alexander disease may include psychomotor retardation, milestone regression, spastic paresis, brain stem symptoms (swallowing, speech, etc.), and seizures.