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

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.

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.

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.

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.