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Neuropsychological Functioning in Alexander Disease: A Case Series.

Alexandra C Kirsch1, Dana M McCall2, Hadley Lange2

  • 1NorthShore University HealthSystem, Evanston, Illinois, USA.

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Summary

Neuropsychological outcomes in Alexander disease vary. Type I cases may show greater cognitive decline than Type II, highlighting the need for ongoing developmental monitoring.

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Alexander diseasecognitionleukodystrophyneuropsychology

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Area of Science:

  • Neuroscience
  • Genetics
  • Pediatric Neurology

Background:

  • Alexander disease is a rare, progressive leukodystrophy with limited data on neuropsychological outcomes.
  • Understanding cognitive trajectories is crucial for managing this rare genetic disorder.

Observation:

  • Two pediatric cases of Alexander disease (Type I and Type II) were evaluated longitudinally.
  • Case 1 (Type I) exhibited progressive declines in intellectual function, visual-motor skills, and academic achievement.
  • Case 2 (Type II) showed variable neurocognitive changes but maintained average word reading, spelling, and verbal memory.

Findings:

  • Alexander disease can lead to variable degrees of cognitive decline.
  • Type I Alexander disease, characterized by earlier onset and seizures, may be associated with more significant cognitive deterioration than Type II.
  • Neuropsychological profiles can differ substantially between Alexander disease subtypes.

Implications:

  • Longitudinal monitoring of cognitive and academic functioning is essential for individuals with Alexander disease.
  • Tailored educational and therapeutic interventions should be based on individual developmental trajectories.
  • Further research is needed to elucidate the specific factors influencing neuropsychological outcomes in Alexander disease.