Document Detail


Neurocognitive testing in late-onset Tay-Sachs disease: a pilot study.
MedLine Citation:
PMID:  18618288     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
D Elstein; G M Doniger; E Simon; I Korn-Lubetzki; R Navon; A Zimran
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Publication Detail:
Type:  Evaluation Studies; Journal Article     Date:  2008-05-30
Journal Detail:
Title:  Journal of inherited metabolic disease     Volume:  31     ISSN:  1573-2665     ISO Abbreviation:  J. Inherit. Metab. Dis.     Publication Date:  2008 Aug 
Date Detail:
Created Date:  2008-08-15     Completed Date:  2008-11-12     Revised Date:  2009-04-16    
Medline Journal Info:
Nlm Unique ID:  7910918     Medline TA:  J Inherit Metab Dis     Country:  Netherlands    
Other Details:
Languages:  eng     Pagination:  518-23     Citation Subset:  IM    
Affiliation:
Gaucher Clinic, Shaare Zedek Medical Center, P.O. Box 3235, Jerusalem, 91031, Israel. elstein@szmc.org.il
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MeSH Terms
Descriptor/Qualifier:
Adult
Age of Onset
Aged
Algorithms
Cognition Disorders / diagnosis*,  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*
Comments/Corrections
Comment In:
J Inherit Metab Dis. 2009 Apr;32(2):310-1   [PMID:  19240988 ]

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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