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06.05.2024 | Original Communication

Heterogeneity of cognitive impairments in myotonic dystrophy type 1 explained by three distinct cognitive profiles

verfasst von: Jean-Baptiste Davion, Céline Tard, Loren Fragoso, Amina Wilu-Wilu, Emilie Skrobala, Luc Defebvre, Xavier Delbeuck

Erschienen in: Journal of Neurology

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Abstract

Background

Severity and nature of cognitive impairments in Myotonic dystrophy type 1 (DM1) are heterogeneous among studies. We hypothesized that this heterogeneity is explained by different cognitive profiles in DM1, with different clinical, biological and behavioral features.

Methods

Adult patients with genetically proven DM1 underwent a clinical, neuropsychological and behavioral assessment. We conducted a k-means clustering analysis on 9 cognitive tests representative of different domains (verbal/non-verbal episodic memory, visuo-constructive abilities, visual gnosis, executive functions, information processing speed).

Results

We included 124 DM1 patients. Mean age was 45.1 ± 13.5 years [19.8–73.2], mean age of onset was 30.4 ± 15.7 years [5–72], and mean CTG triplets’ expansion size was 489.7 ± 351.8 [50–1600]. We found 3 cognitive clusters, including, respectively, 84, 29 and 11 patients. The first cluster included patients with more preserved cognitive functions; the second included patients with worse cognitive performances which predominate on executive functions; and the third even more pronounced and diffuse cognitive deficits. Younger patients, with a more recent DM1 clinical onset, higher educational level were more frequently classified in the cluster with more preserved cognitive functions. There were no significant differences between clusters regarding CTG triplets’ expansion, neither age at DM1 onset, nor most of behavioral measures.

Conclusions

We found different cognitive profiles in our DM1 population, which seem influenced by age and DM1 duration. Our findings may explain the heterogeneity of studies about cognition in DM1, and suggest a potential neurodegenerative mechanism in DM1 adults.

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Titel: Heterogeneity of cognitive impairments in myotonic dystrophy type 1 explained by three distinct cognitive profiles
verfasst von: Jean-Baptiste Davion
Céline Tard
Loren Fragoso
Amina Wilu-Wilu
Emilie Skrobala
Luc Defebvre
Xavier Delbeuck
Publikationsdatum: 06.05.2024
Verlag: Springer Berlin Heidelberg
Erschienen in: Journal of Neurology
Print ISSN: 0340-5354
Elektronische ISSN: 1432-1459
DOI: https://doi.org/10.1007/s00415-024-12404-2

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