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2. The double homeodomain protein DUX4c is associated with regenerating muscle fibers and RNA-binding proteins

Author

Claus, Clothilde, Slavin, Moriya, Ansseau, Eugénie, Lancelot, Céline, Bah, Karimatou, Lassche, Saskia, Fiévet, Manon, Greco, Anna, Tomaiuolo, Sara, Tassin, Alexandra, Dudome, Virginie, Kusters, Benno, Declèves, Anne-Emilie, Laoudj-Chenivesse, Dalila, van Engelen, Baziel G. M., Nonclercq, Denis, Belayew, Alexandra, Kalisman, Nir, and Coppée, Frédérique

Published
2023
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7. Second intravenous immunoglobulin dose in patients with Guillain-Barré syndrome with poor prognosis (SID-GBS): a double-blind, randomised, placebo-controlled trial

Author

Walgaard, Christa, Jacobs, Bart C., Lingsma, Hester F., Steyerberg, Ewout W., Van den Berg, Bianca, Doets, Alexandra Y., Leonhard, Sonja E., Verboon, Christine, Huizinga, Ruth, Drenthen, Judith, Arends, Samuel, Kleine Budde, Ilona, Kleyweg, Ruud P., Kuitwaard, Krista, Van der Meulen, Marjon F.G., Samijn, Johnny P.A., Vermeij, Frederique H., Kuks, Jan B.M., Van Dijk, Gert W., Wirtz, Paul W., Eftimov, Filip, Van der Kooi, Anneke J., Garssen, Marcel P.J., Gijsbers, Cees J., De Rijk, Maarten C., Visser, Leo H., Blom, Roderik J., Linssen, Wim H.J.P., Van der Kooi, Elly L., Verschuuren, Jan J.G.M., Van Koningsveld, Rinske, Dieks, Rita J.G., Gilhuis, H. Job, Jellema, Korné, Van der Ree, Taco C., Bienfait, Henriette M.E., Faber, Karin G., Lovenich, Harry, Van Engelen, Baziel G.M., Groen, Rutger J., Merkies, Ingemar S.J., Van Oosten, Bob W., Van der Pol, W. Ludo, Van der Meulen, Willem D.M., Badrising, Umesh A., Stevens, Martijn, Breukelman, Albert-Jan J., Zwetsloot, Casper P., Van der Graaff, Maaike M., Wohlgemuth, Marielle, Hughes, Richard A.C., Cornblath, David R., Van Doorn, Pieter A., Althingh van Geusau, R.B., Van Boheemen, C.J.M., Bronner, I.M., Feenstra, B., Fokke, C., Hoogendoorn, T.A., Van Houten, R., Hovestad, A., Jansen, P.J.H.W., Keuter, E., Krudde, J., Linn, F.H.H., Lion, J., Manschot, S.M., Mellema, S.J., Molenaar, D.S.M., Nieuwkamp, D.J., Oenema, D.G., Van Oostrom, J.C.H., Van Orshoven, N.P., Van der Ploeg, R.J.O., Polman, S., Ruitenberg, A., Ruts, L., Schyns-Soeterboek, A.J.G.M., Trip, R., Jacobs, Bart C, Lingsma, Hester F, Steyerberg, Ewout W, van den Berg, Bianca, Doets, Alexandra Y, Leonhard, Sonja E, Budde, Ilona Kleine, Kleyweg, Ruud P, van der Meulen, Marjon F G, Samijn, Johnny P A, Vermeij, Frederique H, Kuks, Jan B M, van Dijk, Gert W, Wirtz, Paul W, van der Kooi, Anneke J, Garssen, Marcel P J, Gijsbers, Cees J, de Rijk, Maarten C, Visser, Leo H, Blom, Roderik J, Linssen, Wim H J P, van der Kooi, Elly L, Verschuuren, Jan J G M, van Koningsveld, Rinske, Dieks, Rita J G, Gilhuis, H Job, van der Ree, Taco C, Bienfait, Henriette M E, Faber, Catharina G, van Engelen, Baziel G M, Groen, Rutger J, Merkies, Ingemar S J, van Oosten, Bob W, van der Pol, W Ludo, van der Meulen, Willem D M, Badrising, Umesh A, Breukelman, Albert-Jan J, Zwetsloot, Casper P, van der Graaff, Maaike M, Hughes, Richard A C, Cornblath, David R, and van Doorn, Pieter A

Published
2021
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8. Natural history, outcome measures and trial readiness in LAMA2-related muscular dystrophy and SELENON-related myopathy in children and adults: protocol of the LAST STRONG study

Author

Bouman, Karlijn, Groothuis, Jan T., Doorduin, Jonne, van Alfen, Nens, Udink ten Cate, Floris E. A., van den Heuvel, Frederik M. A., Nijveldt, Robin, van Tilburg, Willem C. M., Buckens, Stan C. F. M., Dittrich, Anne T. M., Draaisma, Jos M. T., Janssen, Mirian C. H., Kamsteeg, Erik-Jan, van Kleef, Esmee S. B., Koene, Saskia, Smeitink, Jan A. M., Küsters, Benno, van Tienen, Florence H. J., Smeets, Hubert J. M., van Engelen, Baziel G. M., Erasmus, Corrie E., and Voermans, Nicol C.

Published
2021
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9. Cognitive behavioural therapy with optional graded exercise therapy in patients with severe fatigue with myotonic dystrophy type 1: a multicentre, single-blind, randomised trial

Author

Kierkegaard, Marie, Okkersen, Kees, Jimenez-Moreno, Cecilia, Wenninger, Stephan, Daidj, Ferroudja, Glennon, Jeffrey, Cumming, Sarah, Littleford, Roberta, Monckton, Darren, Lochmüller, Hanns, Catt, Michael, Faber, Catharina, Hapca, Adrian, Donnan, Peter, Gorman, Gráinne, Bassez, Guillaume, Schoser, Benedikt, Knoop, Hans, Treweek, Shaun, van Engelen, Baziel, Maas, Daphne, Nikolaus, Stephanie, Cornelissen, Yvonne, van Nimwegen, Marlies, Klerks, Ellen, Bouman, Sacha, Heskamp, Linda, Heerschap, Arend, Rahmadi, Ridho, Groot, Perry, Heskes, Tom, Kapusta, Katarzyna, Abghari, Shaghayegh, Aschrafi, Armaz, Poelmans, Geert, Raaphorst, Joost, Trenell, Michael, van Laar, Sandra, Wood, Libby, Cassidy, Sophie, Newman, Jane, Charman, Sarah, Steffaneti, Renae, Taylor, Louise, Brownrigg, Allan, Day, Sharon, Atalaya, Antonio, Hogarth, Fiona, Schüller, Angela, Stahl, Kristina, Künzel, Heike, Wolf, Martin, Jelinek, Anna, Lignier, Baptiste, Couppey, Florence, Delmas, Stéphanie, Deux, Jean-François, Hankiewicz, Karolina, Dogan, Celine, Minier, Lisa, Chevalier, Pascale, Hamadouche, Amira, Adam, Berit, Hannah, Michael, McKenzie, Emma, Rauchhaus, Petra, Van Hees, Vincent, Catt, Sharon, Schwalber, Ameli, Merkies, Ingemar, Dittrich, Juliane, Monckton, Darren G, Faber, Catharina G, Donnan, Peter T, and van Engelen, Baziel G M

Published
2018
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13. NA-CONTROL: a study protocol for a randomised controlled trial to compare specific outpatient rehabilitation that targets cerebral mechanisms through relearning motor control and uses self-management strategies to improve functional capability of the upper extremity, to usual care in patients with neuralgic amyotrophy

Author

Lustenhouwer, Renee, van Alfen, Nens, Cameron, Ian G. M., Toni, Ivan, Geurts, Alexander C. H., Helmich, Rick C., van Engelen, Baziel G. M., and Groothuis, Jan T.

Published
2019
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14. Three‐dimensional quantitative muscle ultrasound in patients with facioscapulohumeral dystrophy and myotonic dystrophy.

Author

de Jong, Leon, Greco, Anna, Nikolaev, Anton, Weijers, Gert, van Engelen, Baziel G. M., de Korte, Chris L., and Fütterer, Jurgen J.

Abstract

Introduction/Aims: Ultrasound imaging of muscle tissue conventionally results in two‐dimensional sampling of tissue. For heterogeneously affected muscles, a sampling error using two‐dimensional (2D) ultrasound can therefore be expected. In this study, we aimed to quantify and extend ultrasound imaging findings in neuromuscular disorders by using three‐dimensional quantitative muscle ultrasound (3D QMUS). Methods: Patients with facioscapulohumeral dystrophy (n = 31) and myotonic dystrophy type 1 (n = 16) were included in this study. After physical examination, including Medical Research Council (MRC) scores, the tibialis anterior muscle was scanned with automated ultrasound. QMUS parameters were calculated over 15 cm of the length of the tibialis anterior muscle and were compared with a healthy reference data set. Results: With 3D QMUS local deviations from the healthy reference could be detected. Significant Pearson correlations (P <.01) between MRC score and QMUS parameters in male patients (n = 23) included the mean echo intensity (EI) (0.684), the standard deviation of EI (0.737), and the residual attenuation (0.841). In 91% of all patients, mean EI deviated by more than 1 standard deviation from the healthy reference. In general, the proportion of muscle tissue with a Z score >1 was about 50%. Discussion: In addition to mean EI, multiple QMUS parameters reported in this study are potential biomarkers for pathology. Besides a moderate correlation of mean EI with muscle weakness, two other parameters showed strong correlations: standard deviation of EI and residual attenuation. Local detection of abnormalities makes 3D QMUS a promising method that can be used in research and potentially for clinical evaluation. [ABSTRACT FROM AUTHOR]

Published
2023
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15. LAMA2-Related Muscular Dystrophy Across the Life Span.

Author

Bouman, Karlijn, Groothuis, Jan T., Doorduin, Jonne, van Alfen, Nens, Udink ten Cate, Floris E. A., den Heuvel, Frederik M. A. van, Nijveldt, Robin, Kamsteeg, Erik-Jan, Dittrich, Anne T. M., Draaisma, Jos M. T., Janssen, Mirian C. H., van Engelen, Baziel G. M., Erasmus, Corrie E., and Voermans, Nicol C.

Published
2023
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17. MRI in sarcoglycanopathies: a large international cohort study

Author

Tasca, Giorgio, Monforte, Mauro, Díaz-Manera, Jordi, Brisca, Giacomo, Semplicini, Claudio, D’Amico, Adele, Fattori, Fabiana, Pichiecchio, Anna, Berardinelli, Angela, Maggi, Lorenzo, Maccagnano, Elio, Løkken, Nicoline, Marini-Bettolo, Chiara, Munell, Francina, Sanchez, Angel, Alshaikh, Nahla, Voermans, Nicol C, Dastgir, Jahannaz, Vlodavets, Dmitry, Haberlová, Jana, Magnano, Gianmichele, Walter, Maggie C, Quijano-Roy, Susana, Carlier, Robert-Yves, van Engelen, Baziel G M, Vissing, John, Straub, Volker, Bönnemann, Carsten G, Mercuri, Eugenio, Muntoni, Francesco, Pegoraro, Elena, Bertini, Enrico, Udd, Bjarne, Ricci, Enzo, and Bruno, Claudio

Published
2018
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18. Effectiveness of an outpatient rehabilitation programme in patients with neuralgic amyotrophy and scapular dyskinesia: a randomised controlled trial.

Author

Janssen, Renske M. J., Lustenhouwer, Renee, Cup, Edith H. C., van Alfen, Nens, Ijspeert, Jos, Helmich, Rick C., Cameron, Ian G. M., Geurts, Alexander C. H., van Engelen, Baziel G. M., Graff, Maud J. L., and Groothuis, Jan T.

Subjects
BRACHIAL plexus neuropathies, TREATMENT programs, RANDOMIZED controlled trials, DYSKINESIAS, COVID-19 pandemic, SERRATUS anterior muscles
Published
2023
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20. Myotonic dystrophy type 1: A comparison between the adult‐ and late‐onset subtype.

Author

Joosten, Isis B.T., Horlings, Corinne G. C., Vosse, Bettine A. H., Wagner, Anouk, Bovenkerk, David S. H., Evertz, Reinder, Vernooy, Kevin, van Engelen, Baziel G. M., and Faber, Catharina G.

Abstract

Introduction/Aims: Although the extent of muscle weakness and organ complications has not been well studied in patients with late‐onset myotonic dystrophy type 1 (DM1), adult‐onset DM1 is associated with severe muscle involvement and possible life‐threatening cardiac and respiratory complications. In this study we aimed to compare the clinical phenotype of adult‐onset vs late‐onset DM1, focusing on the prevalence of cardiac, respiratory, and muscular involvement. Methods: Data were prospectively collected in the Dutch DM1 registry. Results: Two hundred seventy‐five adult‐onset and 66 late‐onset DM1 patients were included. Conduction delay on electrocardiogram was present in 123 of 275 (45%) adult‐onset patients, compared with 24 of 66 (36%) late‐onset patients (P =.218). DM1 subtype did not predict presence of conduction delay (odds ratio [OR] 0.706; confidence interval [CI] 0.405 to 1.230, P =.219). Subtype did predict indication for noninvasive ventilation (NIV) (late onset vs adult onset: OR, 0.254; CI, 0.104 to 0.617; P =.002) and 17% of late‐onset patients required NIV compared with 40% of adult‐onset patients. Muscular Impairment Rating Scale (MIRS) scores were significantly different between subtypes (MIRS 1 to 3 in 66% of adult onset vs 100% of late onset [P <.001]), as were DM1‐activC scores (67 ± 21 in adult onset vs 87 ± 15 in late onset; P <.001). Discussion: Although muscular phenotype was milder in late‐onset compared with adult‐onset DM1, the prevalence of conduction delay was comparable. Moreover, subtype was unable to predict the presence of cardiac conduction delay. Although adult‐onset patients had an increased risk of having an NIV indication, 17% of late‐onset patients required NIV. Despite different muscular phenotypes, screening for multiorgan involvement should be equally thorough in late‐onset as in adult‐onset DM1. [ABSTRACT FROM AUTHOR]

Published
2023
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21. Muscle cramps and contractures: causes and treatment.

Author

Dijkstra, Jildou N., Boon, Eline, Kruijt, Nick, Brusse, Esther, Ramdas, Sithara, Jungbluth, Heinz, van Engelen, Baziel G. M., Walters, Jon, and Voermans, Nicol C.

Subjects
CONTRACTURE (Pathology), MUSCLE contraction, MUSCLE cramps, SYMPTOMS
Abstract

Muscle cramps are painful, sudden, involuntary muscle contractions that are generally selflimiting. They are often part of the spectrum of normal human physiology and can be associated with a wide range of acquired and inherited causes. Cramps are only infrequently due to progressive systemic or neuromuscular diseases. Contractures can mimic cramps and are defined as shortenings of the muscle resulting in an inability of the muscle to relax normally, and are generally myogenic. General practitioners and neurologists frequently encounter patients with muscle cramps but more rarely those with contractures. The main questions for clinicians are: (1) Is this a muscle cramp, a contracture or a mimic? (2) Are the cramps exercise induced, idiopathic or symptomatic? (3) What is/are the presumed cause(s) of symptomatic muscle cramps or contractures? (4) What should be the diagnostic approach? and (5) How should we advise and treat patients with muscle cramps or contractures? We consider these questions and present a practical approach to muscle cramps and contractures, including their causes, pathophysiology and treatment options. [ABSTRACT FROM AUTHOR]

Published
2023
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27. Muscle ultrasound is a sensitive biomarker in oculopharyngeal muscular dystrophy.

Author

Kroon, Rosemarie H. M. J. M., Kalf, Johanna G., Meijers, Rutger L., de Swart, Bert J. M., Cameron, Ian G. M., Doorduin, Jonne, van Alfen, Nens, van Engelen, Baziel G. M., and Horlings, Corinne G. C.

Subjects
OCULOPHARYNGEAL muscular dystrophy, ULTRASONIC imaging, SKELETAL muscle, MUSCLE strength
Abstract

Introduction/aims: Oculopharyngeal muscular dystrophy (OPMD) is a late-onset, progressive muscle disease. Quantitative muscle ultrasound (QMUS) assesses structural changes in muscles and is a sensitive biomarker in neuromuscular disorders. Our aim of this study was to determine whether QMUS can detect muscle pathology and can be used as longitudinal imaging biomarker in OPMD.Methods: Genetically confirmed OPMD patients, recruited by their treating physicians or from the national neuromuscular database, were examined twice, 20 months apart, using QMUS of orofacial and limb muscles, and measurements of functional capacity and muscle strength. Absolute echo intensity (AEI) and muscle thickness of all muscles were analyzed and correlated with clinical data.Results: The tongue, deltoid, iliopsoas, rectus femoris, and soleus muscles showed increased AEI at baseline compared with normal values in 43 OPMD patients, with the rectus femoris being most often affected (51%).The AEI and muscle thickness of 9 of 11 muscles correlated significantly with the motor function measure, 10-step stair test, swallowing capacity, dynamometry, Medical Research Council grade, tongue strength, and bite force (r = 0.302 to -0.711). Between baseline and follow-up, deterioration in AEI was found for the temporalis, tongue, and deltoid muscles, and decreased muscle thickness was detected for the temporalis, masseter, digastric, tongue, deltoid, iliopsoas, and soleus muscles (P < .05). No relation was found between the change in AEI and repeat length or disease duration.Discussion: QMUS detected muscle pathology and disease progression in OPMD over 20 months. We conclude that QMUS should be considered as a biomarker in treatment trials. [ABSTRACT FROM AUTHOR]

Published
2022
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28. Quantitative muscle analysis in facioscapulohumeral muscular dystrophy using whole‐body fat‐referenced MRI: Protocol development, multicenter feasibility, and repeatability.

Author

Widholm, Per, Ahlgren, André, Karlsson, Markus, Romu, Thobias, Tawil, Rabi, Wagner, Kathryn R., Statland, Jeffrey M., Wang, Leo H., Shieh, Perry B., van Engelen, Baziel G. M., Cadavid, Diego, Ronco, Lucienne, Odueyungbo, Adefowope O., Jiang, John G., Mellion, Michelle L., and Dahlqvist Leinhard, Olof

Abstract

Introduction/Aims: Functional performance tests are the gold standard to assess disease progression and treatment effects in neuromuscular disorders. These tests can be confounded by motivation, pain, fatigue, and learning effects, increasing variability and decreasing sensitivity to disease progression, limiting efficacy assessment in clinical trials with small sample sizes. We aimed to develop and validate a quantitative and objective method to measure skeletal muscle volume and fat content based on whole‐body fat‐referenced magnetic resonance imaging (MRI) for use in multisite clinical trials. Methods: Subjects aged 18 to 65 years, genetically confirmed facioscapulohumeral muscular dystrophy 1 (FSHD1), clinical severity 2 to 4 (Ricci's scale, range 0–5), were enrolled at six sites and imaged twice 4–12 weeks apart with T1‐weighted two‐point Dixon MRI covering the torso and upper and lower extremities. Thirty‐six muscles were volumetrically segmented using semi‐automatic multi‐atlas‐based segmentation. Muscle fat fraction (MFF), muscle fat infiltration (MFI), and lean muscle volume (LMV) were quantified for each muscle using fat‐referenced quantification. Results: Seventeen patients (mean age ± SD, 49.4 years ±13.02; 12 men) were enrolled. Within‐patient SD ranged from 1.00% to 3.51% for MFF and 0.40% to 1.48% for MFI in individual muscles. For LMV, coefficients of variation ranged from 2.7% to 11.7%. For the composite score average of all muscles, observed SDs were 0.70% and 0.32% for MFF and MFI, respectively; composite LMV coefficient of variation was 2.0%. Discussion: We developed and validated a method for measuring skeletal muscle volume and fat content for use in multisite clinical trials of neuromuscular disorders. [ABSTRACT FROM AUTHOR]

Published
2022
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34. Blood Transcriptome Profiling Links Immunity to Disease Severity in Myotonic Dystrophy Type 1 (DM1).

Author

Nieuwenhuis, Sylvia, Widomska, Joanna, Blom, Paul, 't Hoen, Peter-Bram A. C., van Engelen, Baziel G. M., and Glennon, Jeffrey C.

Subjects
MYOTONIA atrophica, TRANSCRIPTOMES, DYSTROPHY, IMMUNITY, NATURAL immunity, GENE expression
Abstract

The blood transcriptome was examined in relation to disease severity in type I myotonic dystrophy (DM1) patients who participated in the Observational Prolonged Trial In DM1 to Improve QoL- Standards (OPTIMISTIC) study. This sought to (a) ascertain if transcriptome changes were associated with increasing disease severity, as measured by the muscle impairment rating scale (MIRS), and (b) establish if these changes in mRNA expression and associated biological pathways were also observed in the Dystrophia Myotonica Biomarker Discovery Initiative (DMBDI) microarray dataset in blood (with equivalent MIRS/DMPK repeat length). The changes in gene expression were compared using a number of complementary pathways, gene ontology and upstream regulator analyses, which suggested that symptom severity in DM1 was linked to transcriptomic alterations in innate and adaptive immunity associated with muscle-wasting. Future studies should explore the role of immunity in DM1 in more detail to assess its relevance to DM1. [ABSTRACT FROM AUTHOR]

Published
2022
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35. Chromosome 10q-linked FSHD identifies DUX4 as principal disease gene.

Author

Lemmers, Richard J. L. F., van der Vliet, Patrick J., Blatnik, Ana, Balog, Judit, Zidar, Janez, Henderson, Don, Goselink, Rianne, Tapscott, Stephen J., Voermans, Nicol C., Tawil, Rabi, Padberg, George W. A. M., van Engelen, Baziel G. M., and van der Maare, Silvère M.

Abstract

Background Facioscapulohumeral dystrophy (FSHD) is an inherited muscular dystrophy clinically characterised by muscle weakness starting with the facial and upper extremity muscles. A disease model has been developed that postulates that failure in somatic repression of the transcription factor DUX4 embedded in the D4Z4 repeat on chromosome 4q causes FSHD. However, due to the position of the D4Z4 repeat close to the telomere and the complex genetic and epigenetic aetiology of FSHD, there is ongoing debate about the transcriptional deregulation of closely linked genes and their involvement in FSHD. Method Detailed genetic characterisation and gene expression analysis of patients with clinically confirmed FSHD and control individuals. Results Identification of two FSHD families in which the disease is caused by repeat contraction and DUX4 expression from chromosome 10 due to a de novo D4Z4 repeat exchange between chromosomes 4 and 10. We show that the genetic lesion causal to FSHD in these families is physically separated from other candidate genes on chromosome 4. We demonstrate that muscle cell cultures from affected family members exhibit the characteristic molecular features of FSHD, including DUX4 and DUX4 target gene expression, without showing evidence for transcriptional deregulation of other chromosome 4-specific candidate genes. Conclusion This study shows that in rare situations, FSHD can occur on chromosome 10 due to an interchromosomal rearrangement with the FSHD locus on chromosome 4q. These findings provide further evidence that DUX4 derepression is the dominant disease pathway for FSHD. Hence, therapeutic strategies should focus on DUX4 as the primary target. [ABSTRACT FROM AUTHOR]

Published
2022
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36. Facioscapulohumeral muscular dystrophy—Reproductive counseling, pregnancy, and delivery in a complex multigenetic disease.

Author

Vincenten, Sanne C. C., Van Der Stoep, Nienke, Paulussen, Aimée D. C., Mul, Karlien, Badrising, Umesh A., Kriek, Marjolein, Van Der Heijden, Olivier W. H., Van Engelen, Baziel G. M., Voermans, Nicol C., De Die‐Smulders, Christine E. M., and Lassche, Saskia

Subjects
FACIOSCAPULOHUMERAL muscular dystrophy, PREIMPLANTATION genetic diagnosis, PREGNANCY outcomes, PREGNANCY, COUNSELING, PRENATAL diagnosis
Abstract

Reproductive counseling in facioscapulohumeral muscular dystrophy (FSHD) can be challenging due to the complexity of its underlying genetic mechanisms and due to incomplete penetrance of the disease. Full understanding of the genetic causes and potential inheritance patterns of both distinct FSHD types is essential: FSHD1 is an autosomal dominantly inherited repeat disorder, whereas FSHD2 is a digenic disorder. This has become even more relevant now that prenatal diagnosis and preimplantation genetic diagnosis options are available for FSHD1. Pregnancy and delivery outcomes in FSHD are usually favorable, but clinicians should be aware of the risks. We aim to provide clinicians with case‐based strategies for reproductive counseling in FSHD, as well as recommendations for pregnancy and delivery. [ABSTRACT FROM AUTHOR]

Published
2022
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39. The phenotype of the Gly94fsX222 PMP22 insertion

Author

de Vries, Sara D. J., Verhamme, Camiel, van Ruissen, Fred, van Paassen, Barbara W., Arts, Willem F., Kerkhoff, Henk, van Engelen, Baziel G. M., Lammens, Martin, de Visser, Marianne, Baas, Frank, and van der Kooi, Anneke J.

Published
2011
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47. Structural white matter networks in myotonic dystrophy type 1

Author

van Dorst, Maud, Okkersen, Kees, Kessels, Roy P. C., Meijer, Frederick J. A., Monckton, Darren G., van Engelen, Baziel G. M., Tuladhar, Anil M., Raaphorst, Joost, Nikolaus, Stephanie, Cornelissen, Yvonne, van Nimwegen, Marlies, Maas, Daphne, Klerks, Ellen, Bouman, Sacha, Knoop, Hans, Heskamp, Linda, Heerschap, Arend, Rahmadi, Ridho, Groot, Perry, Heskes, Tom, Kapusta, Katarzyna, Glennon, Jeffrey, Abghari, Shaghayegh, Aschrafi, Armaz, Poelmans, Geert, Lochmueller, Hanns, Gorman, Grainne, Moreno, Aura Cecilia Jimenez, Trenell, Michael, van Laar, Sandra, Wood, Libby, Cassidy, Sophie, Newman, Jane, Charman, Sarah, Steffaneti, Renae, Taylor, Louise, Brownrigg, Allan, Day, Sharon, Atalaia, Antonio, Schoser, Benedikt, Wenninger, Stephan, Schueller, Angela, Stahl, Kristina, Kuenzel, Heike, Wolf, Martin, Jelinek, Anna, Bassez, Guillaume, Daidj, Ferroudja, Faber, Catharina, Merkies, Ingemar, Neurology, Amsterdam Neuroscience - Neuroinfection & -inflammation, Klinische Neurowetenschappen, MUMC+: MA Med Staf Spec Neurologie (9), and RS: MHeNs - R1 - Cognitive Neuropsychiatry and Clinical Neuroscience

Subjects
Male, Alzheimer`s disease Donders Center for Medical Neuroscience [Radboudumc 1], CTG REPEATS, Neuropsychological Tests, Audiology, lcsh:RC346-429, RICH-CLUB, 0302 clinical medicine, QUALITY-OF-LIFE, Neural Pathways, Image Processing, Computer-Assisted, Myotonic Dystrophy, Medicine, Purdue Pegboard Test, Apathy, Neuropsychological assessment, SCALE, PERSONALITY, medicine.diagnostic_test, Myotonic dystrophy type 1, ABNORMALITIES, White matter, 05 social sciences, Neuropsychology, Brain, EXPANSION, Middle Aged, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Diffusion tensor imaging, medicine.anatomical_structure, Neurology, lcsh:R858-859.7, Female, medicine.symptom, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9], MRI, Tractography, Adult, medicine.medical_specialty, Cognitive Neuroscience, lcsh:Computer applications to medicine. Medical informatics, Myotonic dystrophy, Article, 050105 experimental psychology, 03 medical and health sciences, Humans, 0501 psychology and cognitive sciences, Radiology, Nuclear Medicine and imaging, BRAIN CONNECTIVITY, lcsh:Neurology. Diseases of the nervous system, Neuro- en revalidatiepsychologie, business.industry, Neuropsychology and rehabilitation psychology, SPATIAL STATISTICS, COGNITIVE IMPAIRMENT, medicine.disease, Cross-Sectional Studies, Neurology (clinical), Networks, business, 030217 neurology & neurosurgery, Diffusion MRI
Abstract

The myriad of neuropsychiatric manifestations reported in myotonic dystrophy type 1 may have its origin in alterations of complex brain network interactions at the structural level. In this study, we tested the hypothesis that altered white matter microstructural integrity and network organisation were present in a cohort of individuals with DM1 compared to unaffected controls, which was expected to be associated with CNS related disease manifestations of DM1. We performed a cross-sectional neuropsychological assessment and brain MRI in 25 myotonic dystrophy type 1 (DM1) patients and 26 age, sex and educational level matched unaffected controls. Patients were recruited from the Dutch cohort of the OPTIMISTIC study, a concluded trial which had included ambulant, genetically confirmed DM1 patients who were severely fatigued. We applied graph theoretical analysis on structural networks derived from diffusion tensor imaging (DTI) data and deterministic tractography to determine global and local network properties and performed group-wise comparisons. Furthermore, we analysed the following variables from structural MRI imaging: semi-quantitative white matter hyperintensity load andwhite matter tract integrity using tract-based spatial statistics (TBSS). Structural white matter networks in DM1 were characterised by reduced global efficiency, local efficiency and strength, while the network density was compatible to controls. Other findings included increased white matter hyperintensity load, and diffuse alterations of white matter microstructure in projection, association and commissural fibres. DTI and network measures were associated (partial correlations coefficients ranging from 0.46 to 0.55) with attention (d2 Test), motor skill (Purdue Pegboard test) and visual-constructional ability and memory (copy subtest of the Rey-Osterrieth Complex Figure Test). DTI and network measures were not associated with clinical measures of fatigue (checklist individual strength, fatigue subscale) or apathy (apathy evaluation scale – clinician version). In conclusion, our study supports the view of brain involvement in DM1 as a complex network disorder, characterised by white matter network alterations that may have relevant neuropsychological correlations. This work was supported by the European Community's Seventh Framework Programme (FP7/2007–2013; grant agreement n° 305,697) and the Marigold Foundation., Highlights • Structural white matter networks in DM1 display diffuse alterations in connectivity in comparison with unaffected controls • Networks are characterised by decreased strenght, local and global efficiency, at a comparable density • In this study, network parameters were slightly associated with measures of neuropsychological performance

Published
2019

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