Neurocognitive testing in late-onset Tay-Sachs disease: a pilot study

J Inherit Metab Dis. 2008 Aug;31(4):518-23. doi: 10.1007/s10545-008-0884-z. Epub 2008 May 30.


Objectives: To test neurocognitive function in patients with late-onset Tay-Sachs disease (LOTS) using a computerized system to assess whether cognition is a clinically relevant outcome measure of possible therapeutic intervention in LOTS.

Methods: Ten adults with Tay-Sachs disease were administered at least one battery of the Mindstreams Neurotrax system for evaluation of cognitive function. Six sub-scores and a Global Cognitive Score (GCS) were tabulated. A disease specific severity score was also devised with six domains.

Results: Despite identical genotypes, all patients but the two oldest had > or = 3/6 sub-scores one standard deviation below normal mean (100); verbal and executive functions were most affected. The severity score measured other functions.

Conclusions: Because of provocative findings on re-testing in patients exposed to miglustat, and despite the very small cohort, cognitive function may be an appropriate and clinically relevant outcome measure for future therapeutic interventions in LOTS.

Publication types

  • Evaluation Study

MeSH terms

  • Adult
  • Age of Onset
  • Aged
  • Algorithms
  • Cognition Disorders / diagnosis*
  • Cognition Disorders / etiology*
  • Diagnosis, Computer-Assisted / methods
  • Diagnostic Techniques, Neurological*
  • Female
  • Humans
  • Male
  • Middle Aged
  • Pilot Projects
  • Research Design
  • Severity of Illness Index
  • Tay-Sachs Disease / complications*