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Behavioral and Brain Functions
Published in: Behavioral and Brain Functions 1/2006

Open Access 01-12-2006 | Research

Cognitive deficits and CTG repeat expansion size in classical myotonic dystrophy type 1 (DM1)

Authors: Stefan Winblad, Christopher Lindberg, Stefan Hansen

Published in: Behavioral and Brain Functions | Issue 1/2006

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Abstract

Background

This study was designed to investigate cognitive abilities and their correlations with CTG repeat expansion size in classical Myotonic dystrophy type 1 (DM1), given that earlier studies have indicated cognitive deficits, possibly correlating with blood CTG repeats expansion size.

Methods

A measurement of CTG repeat expansion in lymphocytes and an extensive neuropsychological examination was made in 47 patients (25 women and 22 men). Individual results in the examination were compared with normative data.

Results

A substantial proportion of patients with DM1 (> 40%) scored worse in comparison to normative collectives on tests measuring executive, arithmetic, attention, speed and visuospatial abilities. We found significant correlations between longer CTG repeat expansion size and lower results on most tests associated with these abilities. Furthermore, the association between executive (frontal) deficits and DM1 were strengthened when considering both test results and correlations with CTG repeat expansion size in lymphocytes.

Conclusion

This study showed deficits in several cognitive abilities when patients with DM1 are compared to normative collectives. Some of the neuropsychological tests associated with these abilities are correlated to CTG repeat expansion size in blood. These data highlight the importance of considering cognitive deficits when seeing patients with classical DM1 in clinical practice, but also the utility of using blood CTG repeat expansion size as a broad predictor of finding cognitive deficit in DM1.
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Metadata
Title
Cognitive deficits and CTG repeat expansion size in classical myotonic dystrophy type 1 (DM1)
Authors
Stefan Winblad
Christopher Lindberg
Stefan Hansen
Publication date
01-12-2006
Publisher
BioMed Central
Published in
Behavioral and Brain Functions / Issue 1/2006
Electronic ISSN: 1744-9081
DOI
https://doi.org/10.1186/1744-9081-2-16

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