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Neurocognitive testing in late‐onset Tay–Sachs disease: A pilot study
Author(s) -
Elstein D.,
Doniger G. M.,
Simon E.,
KornLubetzki I.,
Navon R.,
Zimran A.
Publication year - 2008
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/s10545-008-0884-z
Subject(s) - neurocognitive , cognition , medicine , cohort , disease , cognitive test , pediatrics , psychiatry
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.