Cerebral involvement and related aspects in myotonic dystrophy type 2

Perić, Stojan; Rakočević-Stojanović, Vidosava; Meola, Giovanni

doi:10.1016/j.nmd.2021.06.002

Cited by 7 publications

(4 citation statements)

References 115 publications

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“…Interestingly, LPAC and QAGR peptide-mediated toxicity seem to be independent of RNA gain of function in DM2 pathogenesis [ 21 ]. In DM2 brain autopsy samples, LPAC proteins have been found in the gray matter, including neurons, astrocytes, and glia, and QAGR proteins have been found in the white matter [ 6 , 21 ].…”

Section: Dm2 Pathogenesis Using Drosophila As a St...mentioning

confidence: 99%

“…Individuals with DM2 have reported cognitive impairments, including problems with attention, memory, and executive functions. These cognitive issues underscore central nervous system involvement and imply a neurodegenerative aspect of the disease [ 6 ]. While most of these insights have originated from clinical observations, comprehensive studies to examine the nervous system’s contribution to pathology and the interplay between neuronal and muscular degeneration have not been elucidated yet.…”

Section: Introductionmentioning

confidence: 99%

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Modeling Myotonic Dystrophy Type 2 Using Drosophila melanogaster

Marzullo,

Coni,

De Simone

et al. 2023

IJMS

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Myotonic dystrophy 2 (DM2) is a genetic multi-systemic disease primarily affecting skeletal muscle. It is caused by CCTGn expansion in intron 1 of the CNBP gene, which encodes a zinc finger protein. DM2 disease has been successfully modeled in Drosophila melanogaster, allowing the identification and validation of new pathogenic mechanisms and potential therapeutic strategies. Here, we describe the principal tools used in Drosophila to study and dissect molecular pathways related to muscular dystrophies and summarize the main findings in DM2 pathogenesis based on DM2 Drosophila models. We also illustrate how Drosophila may be successfully used to generate a tractable animal model to identify novel genes able to affect and/or modify the pathogenic pathway and to discover new potential drugs.

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Section: Dm2 Pathogenesis Using Drosophila As a St...mentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Modeling Myotonic Dystrophy Type 2 Using Drosophila melanogaster

Marzullo,

Coni,

De Simone

et al. 2023

IJMS

View full text Add to dashboard Cite

show abstract

“…Histopathological post-mortem analysis showed loss of nerve cells, presence of eosinophilic intracellular inclusions, neurofibrillary tangles, as well as Marinesco bodies in different regions of the DM2 brain [5] . Using MRI techniques, the most significant macrostructural impairments were observed within the white matter including white matter hyperintensity lesions (WMHL) and atrophy, while the grey matter showed less volume decrease or even remained unchanged [6][7][8] . Functional neuroimaging indicated reduced glucose uptake and decreased blood flow mostly in the frontal and temporal lobes [ 6 , 9 ].…”

Section: Introductionmentioning

confidence: 99%

Cognitive assessment in patients with myotonic dystrophy type 2

Perić

Gunjic

Delic

et al. 2022

Neuromuscular Disorders

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“…Myotonic dystrophy type 2 (DM2) is a multisystem disorder, inherited in an autosomal-dominant pattern, and presents with a steadily progressive mild proximal muscle weakness mainly in the lower limbs, fluctuating myotonia, muscle pain, cataracts, and cardiac, endocrine, and metabolic abnormalities, most notably glucose and lipid metabolism impairments ( 1 ). There have also been reports of brain involvement in DM2 ( 2 ). The overwhelming number of issues patients with DM2 face makes a tremendous impact on their everyday life and poses diagnostic and treatment challenges for practitioners.…”

Section: Introductionmentioning

confidence: 99%

Autoimmune Diseases in Patients With Myotonic Dystrophy Type 2

et al. 2022

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IntroductionMyotonic dystrophy type 2 (DM2) is a rare autosomal dominant multisystemic disease with highly variable clinical presentation. Several case reports and one cohort study suggested a significant association between DM2 and autoimmune diseases (AIDs).AimThe aim of this study is to analyze the frequency and type of AIDs in patients with DM2 from the Serbian DM registry.Patients and MethodsA total of 131 patients with DM2 from 108 families were included, [62.6% women, mean age at DM2 onset 40.4 (with standard deviation 13) years, age at entering the registry 52 (12.8) years, and age at analysis 58.4 (12.8) years]. Data were obtained from Akhenaten, the Serbian registry for DM, and through the hospital electronic data system.ResultsUpon entering the registry, 35 (26.7%) of the 131 patients with DM2 had AIDs including Hashimoto thyroiditis (18.1%), rheumatoid arthritis, diabetes mellitus type 1, systemic lupus, Sjogren's disease, localized scleroderma, psoriasis, celiac disease, Graves's disease, neuromyelitis optica, myasthenia gravis, and Guillain-Barre syndrome. At the time of data analysis, one additional patient developed new AIDs, so eventually, 36 (28.8%) of 125 DM2 survivors had AIDs. Antinuclear antibodies (ANAs) were found in 14 (10.7%) of 63 tested patients, including 12 without defined corresponding AID (all in low titers, 1:40 to 1:160). Antineutrophil cytoplasmic antibodies (ANCAs) were negative in all 50 tested cases. The percentage of women was significantly higher among patients with AIDs (82.9% vs. 55.2%, p <0.01).ConclusionAIDs were present in as high as 30% of the patients with DM2. Thus, screening for AIDs in DM2 seems reasonable. Presence of AIDs and/or ANAs may lead to under-diagnosis of DM2.

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Cerebral involvement and related aspects in myotonic dystrophy type 2

Cited by 7 publications

References 115 publications

Modeling Myotonic Dystrophy Type 2 Using Drosophila melanogaster

Modeling Myotonic Dystrophy Type 2 Using Drosophila melanogaster

Cognitive assessment in patients with myotonic dystrophy type 2

Autoimmune Diseases in Patients With Myotonic Dystrophy Type 2

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