Summary
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 ≥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.
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Communicating editor: Guy Besley
Competing Interests: A private grant to one of us (D.E.) for LOTS-related research provided funds for transportation of patients to Jerusalem and paid for Neurotrax testing. G.M.D. and E.S. are paid employees of the Neurotrax Corporation. DE, AZ, IKL and RN had no associations during the period covered in this report such as consultancies, stock ownership, or other equity interests or patent licensing arrangements that may have posed a conflict of interest.
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Elstein, D., Doniger, G.M., Simon, E. et al. Neurocognitive testing in late-onset Tay–Sachs disease: A pilot study. J Inherit Metab Dis 31, 518–523 (2008). https://doi.org/10.1007/s10545-008-0884-z
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DOI: https://doi.org/10.1007/s10545-008-0884-z