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. 2024 Apr;45(4):1691-1698.
doi: 10.1007/s10072-023-07169-x. Epub 2023 Nov 15.

Cognitive abnormalities in Becker muscular dystrophy: a mysterious link between dystrophin deficiency and executive functions

Laura Pezzoni  1 , Roberta Brusa  2 , Teresa Difonzo  1 , Francesca Magri  1 , Daniele Velardo  3 , Stefania Corti  3   4 , Giacomo Pietro Comi  1   4 , Maria Cristina Saetti  5   6
Affiliations

Cognitive abnormalities in Becker muscular dystrophy: a mysterious link between dystrophin deficiency and executive functions

Laura Pezzoni et al. Neurol Sci. 2024 Apr.

Abstract

Background: Distrophinopathies are a heterogeneous group of neuromuscular disorders due to mutations in the DMD gene. Different isoforms of dystrophin are also expressed in the cerebral cortex and Purkinje cells. Despite cognitive abnormalities in Duchenne muscular dystrophy subjects that have been described in the literature, little is known about a comprehensive cognitive profile in Becker muscular dystrophy patients.

Aim: The aim of this study was to assess cognitive functioning in Becker muscular dystrophy patients by using an extensive neuropsychological battery. Our hypothesis is that the most impaired functions are the highly intentional and conscious ones, such as working memory functions, which require a prolonged state of cellular activation.

Methods: We performed an extensive neuropsychological assessment on 28 Becker muscular dystrophy patients from 18 to 65 years old. As control subjects, we selected 20 patients with limb-girdle muscular dystrophy, whose clinical picture was similar except for cognitive integrity. The evaluation, although extended to all areas, was focused on prefrontal control skills, with a distinction between inhibitory processes of selective attention and activating processes of working memory.

Results and conclusions: Significant underperformances were found exclusively in the Dual Task and PASAT tests, to demonstrate a selective impairment of working memory that, while not causing intellectual disability, reduces the intellectual potential of patients with Becker muscular dystrophy.

Keywords: Becker muscular dystrophy; Cognition; Executive functions; Neuropsychological tests.

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Conflict of interest statement

The authors declare no competing interests.

References

    1. Ricotti V, Roberts RG, Muntoni F. Dystrophin and the brain. Dev Med Child Neurol. 2011;53(1):12. doi: 10.1111/j.1469-8749.2010.03836.x. - DOI - PubMed
    1. Chamova T, Guergueltcheva V, Raycheva M, Todorov T, Genova J, Bichev S, Bojinova V, Mitev V, Tournev I, Todorova A. Association between loss of function of Dp140 and cognitive impairment in Duchenne and Becker dystrophies. BJMG. 2013;16(1):21–30. doi: 10.2478/bjmg-2013-0014. - DOI - PMC - PubMed
    1. Aranmolate A, Tse N, Colognato H. Myelination is delayed during postnatal brain development in the mdx mouse model of Duchenne muscular dystrophy. BMC Neurosci. 2017;18(1):63. doi: 10.1186/s12868-017-0381-0. - DOI - PMC - PubMed
    1. Rae M, O’Malley D. Cognitive dysfunction in Duchenne muscular dystrophy: a possible role for neuromodulatory immune molecules. J Neurophysiol. 2016;116(3):1304–1315. doi: 10.1152/jn.00248.2016. - DOI - PMC - PubMed
    1. García-Cruz C, Merino-Jiménez C, Ceja V, Aragón J, Siqueiros-Márquez L, Reyes-Grajeda JP, Montañez C. The dystrophin isoform Dp71eΔ71 is involved in neurite outgrowth and neuronal differentiation of PC12 cells. J Proteomics. 2019;191:80–87. doi: 10.1016/j.jprot.2018.03.027. - DOI - PubMed