Cognitive impairment in adult Alexander disease.
Eva Maes, Gert Cypers, Sam Van de Schoot et al.
✦ AI-curated · Sources linked
Case in brief
A 53-year-old man with genetically confirmed adult-onset Alexander disease presented with progressive cognitive and behavioral issues. Neuropsychological assessment revealed deficits in verbal episodic memory retrieval and set-shifting efficiency, while recognition memory, language, visuospatial abilities, and most attentional measures were relatively preserved. MRI showed characteristic medullary and upper cervical cord involvement with limited supratentorial white matter abnormalities.
Diagnostic / clinical pearl
Clinicians should be aware that adult-onset Alexander disease can present with specific cognitive deficits, particularly in memory retrieval and executive function, despite preserved abilities in other cognitive domains.
Why it matters
This case highlights the need for comprehensive neuropsychological assessments in adult-onset Alexander disease to better understand its cognitive manifestations and guide management.