Neurocognitive testing in late-onset Tay-Sachs disease: a pilot study.
OBJECTIVE
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.
Elstein
D
D
Gaucher Clinic, Shaare Zedek Medical Center, P.O. Box 3235, Jerusalem, 91031, Israel. elstein@szmc.org.il
Doniger
G M
GM
Simon
E
E
Korn-Lubetzki
I
I
Navon
R
R
Zimran
A
A
D000328:Adult; D017668:Age of Onset; D000368:Aged; D000465:Algorithms; D003072:Cognition Disorders / Q000175:diagnosis* / Q000209:etiology*; D003936:Diagnosis, Computer-Assisted / Q000379:methods; D003943:Diagnostic Techniques, Neurological; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D010865:Pilot Projects; D012107:Research Design; D012720:Severity of Illness Index; D013661:Tay-Sachs Disease / Q000150:complications*