Cortical hyperexcitability in XXXX with @entity3301 mutations: relationship to phenotype.

@entity1 @entity303 @entity9808 @entity3301 @entity746 @entity4943
UNASSIGNED: Introduction @entity1 with mutations in @entity3301 can have @entity746 ( @entity746 ), @entity4943 ( @entity4943 ), or @entity746 - @entity4943 . The goals were to establish whether cortical hyperexcitability occurs in @entity3301 @entity1 with different clinical presentations. Methods Cortical thresholds and silent periods were measured in thenar muscles in 19 @entity1 with @entity3301 expansions and 21 healthy controls using @entity9808 ( @entity9808 ). El Escorial and Rascovsky criteria were used to diagnose @entity746 and @entity4943 . Fourteen @entity1 with @entity3301 expansions were re-tested 6 months later. Correlations with finger-tapping speed, timed peg test, the @entity746 functional rating scale, and @entity303 Rating Scale were examined. Results Most @entity1 with @entity3301 expansions had normal or low cortical thresholds. Among them, @entity746 @entity1 had the lowest thresholds and significantly shorter silent periods. Thresholds correlated with timed peg-test scores. @entity9808 did not correlate with the @entity303 Rating Scale. Conclusion @entity9808 measures of cortical excitability may serve as non-invasive biomarkers of @entity746 disease activity. This article is protected by copyright. All rights reserved.
