title: Neurocognitive testing in late-onset Tay-Sachs disease: a pilot study.
abstract: 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.
authors.affiliation: Gaucher Clinic, Shaare Zedek Medical Center, P.O. Box 3235, Jerusalem, 91031, Israel. elstein@szmc.org.il
authors.forename: D
authors.initials: D
authors.lastname: Elstein
authors.forename: G M
authors.initials: GM
authors.lastname: Doniger
authors.forename: E
authors.initials: E
authors.lastname: Simon
authors.forename: I
authors.initials: I
authors.lastname: Korn-Lubetzki
authors.forename: R
authors.initials: R
authors.lastname: Navon
authors.forename: A
authors.initials: A
authors.lastname: Zimran
mesh_terms: 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*