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1. Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP-mediated disease reveals characteristic features useful for diagnosis

Author

Esteller, Diana, Schiava, Marianela, Verdú-Díaz, José, Villar-Quiles, Rocío-Nur, Dibowski, Boris, Venturelli, Nadia, Laforet, Pascal, Alonso-Pérez, Jorge, Olive, Montse, Domínguez-González, Cristina, Paradas, Carmen, Vélez, Beatriz, Kostera-Pruszczyk, Anna, Kierdaszuk, Biruta, Rodolico, Carmelo, Claeys, Kristl, Pál, Endre, Malfatti, Edoardo, Souvannanorath, Sarah, Alonso-Jiménez, Alicia, de Ridder, Willem, De Smet, Eline, Papadimas, George, Papadopoulos, Constantinos, Xirou, Sofia, Luo, Sushan, Muelas, Nuria, Vilchez, Juan J., Ramos-Fransi, Alba, Monforte, Mauro, Tasca, Giorgio, Udd, Bjarne, Palmio, Johanna, Sri, Srtuhi, Krause, Sabine, Schoser, Benedikt, Fernández-Torrón, Roberto, López de Munain, Adolfo, Pegoraro, Elena, Farrugia, Maria Elena, Vorgerd, Mathias, Manousakis, Georgious, Chanson, Jean Baptiste, Nadaj-Pakleza, Aleksandra, Cetin, Hakan, Badrising, Umesh, Warman-Chardon, Jodi, Bevilacqua, Jorge, Earle, Nicholas, Campero, Mario, Díaz, Jorge, Ikenaga, Chiseko, Lloyd, Thomas E., Nishino, Ichizo, Nishimori, Yukako, Saito, Yoshihiko, Oya, Yasushi, Takahashi, Yoshiaki, Nishikawa, Atsuko, Sasaki, Ryo, Marini-Bettolo, Chiara, Guglieri, Michela, Straub, Volker, Stojkovic, Tanya, Carlier, Robert Y., and Díaz-Manera, Jordi

Published
2023
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2. Genotype-phenotype correlations in valosin-containing protein disease: a retrospective muticentre study.

Author

Schiava, Marianela, Ikenaga, Chiseko, Villar-Quiles, Rocío, Caballero-Ávila, Marta, Topf, Ana, Nishino, Ichizo, Kimonis, Virginia, Udd, Bjarne, Schoser, Benedikt, Zanoteli, Edmar, Souza, Paulo, Tasca, Giorgio, Lloyd, Thomas, Lopez-de Munain, Adolfo, Paradas, Carmen, Pegoraro, Elena, Nadaj-Pakleza, Aleksandra, De Bleecker, Jan, Badrising, Umesh, Alonso-Jiménez, Alicia, Kostera-Pruszczyk, Anna, Miralles, Francesc, Shin, Jin-Hong, Bevilacqua, Jorge, Olivé, Montse, Vorgerd, Matthias, Kley, Rudi, Brady, Stefen, Williams, Timothy, Domínguez-González, Cristina, Papadimas, George, Warman-Chardon, Jodi, Claeys, Kristl, de Visser, Marianne, Muelas, Nuria, LaForet, Pascal, Malfatti, Edoardo, Alfano, Lindsay, Nair, Sruthi, Manousakis, Georgios, Kushlaf, Hani, Harms, Matthew, Nance, Christopher, Ramos-Fransi, Alba, Rodolico, Carmelo, Hewamadduma, Channa, Cetin, Hakan, García-García, Jorge, Pál, Endre, Farrugia, Maria, Lamont, Phillipa, Quinn, Colin, Nedkova-Hristova, Velina, Peric, Stojan, Luo, Sushan, Oldfors, Anders, Taylor, Kate, Ralston, Stuart, Stojkovic, Tanya, Weihl, Conrad, and Diaz-Manera, Jordi

Subjects
FRONTOTEMPORAL DEMENTIA, GENETICS, INCL BODY MYOSITIS, MUSCLE DISEASE, MYOPATHY
Abstract

BACKGROUND: Valosin-containing protein (VCP) disease, caused by mutations in the VCP gene, results in myopathy, Pagets disease of bone (PBD) and frontotemporal dementia (FTD). Natural history and genotype-phenotype correlation data are limited. This study characterises patients with mutations in VCP gene and investigates genotype-phenotype correlations. METHODS: Descriptive retrospective international study collecting clinical and genetic data of patients with mutations in the VCP gene. RESULTS: Two hundred and fifty-five patients (70.0% males) were included in the study. Mean age was 56.8±9.6 years and mean age of onset 45.6±9.3 years. Mean diagnostic delay was 7.7±6 years. Symmetric lower limb weakness was reported in 50% at onset progressing to generalised muscle weakness. Other common symptoms were ventilatory insufficiency 40.3%, PDB 28.2%, dysautonomia 21.4% and FTD 14.3%. Fifty-seven genetic variants were identified, 18 of these no previously reported. c.464G>A (p.Arg155His) was the most frequent variant, identified in the 28%. Full time wheelchair users accounted for 19.1% with a median time from disease onset to been wheelchair user of 8.5 years. Variant c.463C>T (p.Arg155Cys) showed an earlier onset (37.8±7.6 year) and a higher frequency of axial and upper limb weakness, scapular winging and cognitive impairment. Forced vital capacity (FVC) below 50% was as risk factor for being full-time wheelchair user, while FVC

Published
2022

3. Correction to: Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP‑mediated disease reveals characteristic features useful for diagnosis

Author

Esteller, Diana, Schiava, Marianela, Verdú-Díaz, José, Villar-Quiles, Rocío-Nur, Dibowski, Boris, Venturelli, Nadia, Laforet, Pascal, Alonso-Pérez, Jorge, Olive, Montse, Domínguez-González, Cristina, Paradas, Carmen, Vélez, Beatriz, Kostera-Pruszczyk, Anna, Kierdaszuk, Biruta, Rodolico, Carmelo, Claeys, Kristl, Pál, Endre, Malfatti, Edoardo, Souvannanorath, Sarah, Alonso-Jiménez, Alicia, de Ridder, Willem, De Smet, Eline, Papadimas, George, Papadopoulos, Constantinos, Xirou, Sofia, Luo, Sushan, Muelas, Nuria, Vilchez, Juan J., Ramos-Fransi, Alba, Monforte, Mauro, Tasca, Giorgio, Udd, Bjarne, Palmio, Johanna, Sri, Srtuhi, Krause, Sabine, Schoser, Benedikt, Fernández-Torrón, Roberto, López de Munain, Adolfo, Pegoraro, Elena, Farrugia, Maria Elena, Vorgerd, Mathias, Manousakis, Georgious, Chanson, Jean Baptiste, Nadaj-Pakleza, Aleksandra, Cetin, Hakan, Badrising, Umesh, Warman-Chardon, Jodi, Bevilacqua, Jorge, Earle, Nicholas, Campero, Mario, Díaz, Jorge, Ikenaga, Chiseko, Lloyd, Thomas E., Nishino, Ichizo, Nishimori, Yukako, Saito, Yoshihiko, Oya, Yasushi, Takahashi, Yoshiaki, Nishikawa, Atsuko, Sasaki, Ryo, Marini-Bettolo, Chiara, Guglieri, Michela, Straub, Volker, Stojkovic, Tanya, Carlier, Robert Y., and Díaz-Manera, Jordi

Published
2024
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5. Decoding the muscle transcriptome of patients with late-onset Pompe disease reveals markers of disease progression.

Author

Monceau, Alexandra, Nath, Rasya Gokul, Suárez-Calvet, Xavier, Musumeci, Olimpia, Toscano, Antonio, Kierdaszuk, Biruta, Kostera-Pruszczyk, Anna, Domínguez-González, Cristina, Hernández-Lain, Aurelio, Paradas, Carmen, Rivas, Eloy, Papadimas, George, Papadopoulos, Constantinos, Chrysanthou-Piterou, Margarita, Gallardo, Eduard, Olivé, Montse, Lilleker, James, Roberts, Mark E, Marchese, Domenica, and Lunazzi, Giulia

Subjects
GLYCOGEN storage disease type II, GLYCOGEN storage disease, AMINO acid metabolism, CELL nuclei, ENZYME replacement therapy
Abstract

Late-onset Pompe disease (LOPD) is a rare genetic disorder caused by the deficiency of acid alpha-glucosidase leading to progressive cellular dysfunction owing to the accumulation of glycogen in the lysosome. The mechanism of relentless muscle damage (a classic manifestation of the disease) has been studied extensively by analysing the whole-muscle tissue; however, little, if anything, is known about transcriptional heterogeneity among nuclei within the multinucleated skeletal muscle cells. This is the first report of application of single-nucleus RNA sequencing to uncover changes in the gene expression profile in muscle biopsies from eight patients with LOPD and four muscle samples from age- and sex-matched healthy controls. We matched these changes with histological findings using GeoMx spatial transcriptomics to compare the transcriptome of control myofibres from healthy individuals with non-vacuolated (histologically unaffected) and vacuolated (histologically affected) myofibres of LODP patients. We observed an increase in the proportion of slow and regenerative muscle fibres and macrophages in LOPD muscles. The expression of the genes involved in glycolysis was reduced, whereas the expression of the genes involved in the metabolism of lipids and amino acids was increased in non-vacuolated fibres, indicating early metabolic abnormalities. Additionally, we detected upregulation of autophagy genes and downregulation of the genes involved in ribosomal and mitochondrial function leading to defective oxidative phosphorylation. Upregulation of genes associated with inflammation, apoptosis and muscle regeneration was observed only in vacuolated fibres. Notably, enzyme replacement therapy (the only available therapy for the disease) showed a tendency to restore dysregulated metabolism, particularly within slow fibres. A combination of single-nucleus RNA sequencing and spatial transcriptomics revealed the landscape of the normal and diseased muscle and highlighted the early abnormalities associated with disease progression. Thus, the application of these two new cutting-edge technologies provided insight into the molecular pathophysiology of muscle damage in LOPD and identified potential avenues for therapeutic intervention. [ABSTRACT FROM AUTHOR]

Published
2024
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6. Serum miRNAs as biomarkers for the rare types of muscular dystrophy

Author

Koutsoulidou, Andrie, Koutalianos, Demetris, Georgiou, Kristia, Kakouri, Andrea C., Oulas, Anastasis, Tomazou, Marios, Kyriakides, Tassos C., Roos, Andreas, Papadimas, George K., Papadopoulos, Constantinos, Kararizou, Evangelia, Spyrou, George M., Zamba Papanicolaou, Eleni, Lochmüller, Hanns, and Phylactou, Leonidas A.

Published
2022
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7. miR-223-3p and miR-24-3p as novel serum-based biomarkers for myotonic dystrophy type 1

Author

Koutalianos, Demetris, Koutsoulidou, Andrie, Mytidou, Chrystalla, Kakouri, Andrea C., Oulas, Anastasis, Tomazou, Marios, Kyriakides, Tassos C., Prokopi, Marianna, Kapnisis, Konstantinos, Nikolenko, Nikoletta, Turner, Chris, Lusakowska, Anna, Janiszewska, Katarzyna, Papadimas, George K., Papadopoulos, Constantinos, Kararizou, Evangelia, Spyrou, George M., Gourdon, Geneviève, Zamba Papanicolaou, Eleni, Gorman, Grainne, Anayiotos, Andreas, Lochmüller, Hanns, and Phylactou, Leonidas A.

Published
2021
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8. Safety and efficacy of cipaglucosidase alfa plus miglustat versus alglucosidase alfa plus placebo in late-onset Pompe disease (PROPEL): an international, randomised, double-blind, parallel-group, phase 3 trial

Author

Sebok, Agnes, Pestronk, Alan, Dominovic-Kovacevic, Aleksandra, Khan, Aneal, Koritnik, Blaž, Tard, Celine, Lindberg, Christopher, Quinn, Colin, Kornblum, Cornelia, Eldridge, Crystal, Bodkin, Cynthia, Reyes-Leiva, David, Hughes, Derralynn, Stefanescu, Ela, SALORT-CAMPANA, Emmanuelle, Butler, Ernest, Bouhour, Francoise, Kim, Gee, Konstantinos Papadimas, George, Parenti, Giancarlo, Bartosik-Psujek, Halina, Kushlaf, Hani, Akihiro, Hashiguchi, Lau, Heather, Pedro, Helio, Andersen, Henning, Amartino, Hernan, Shiraishi, Hideaki, Kobayashi, Hiroshi, Tarnev, Ivaylo, Vengoechea, Jaime, Avelar, Jennifer, Shin, Jin-Hong, Cauci, Jonathan, Alonso-Pérez, Jorge, Janszky, Jozsef, Berthy, Julie, Gutschmidt, Kristina, Claeys, Kristl, Judit Molnar, Maria, Wencel, Marie, Tarnopolsky, Mark, Dimachkie, Mazen, Tchan, Michel, Freimer, Miriam, Longo, Nicola, Vidal-Fernandez, Nuria, Musumeci, Olimpia, Goker-Alpan, Ozlem, Deegan, Patrick, Clemens, Paula R., Roxburgh, Richard, Henderson, Robert, Hopkin, Robert, Sacconi, Sabrina, Fecarotta, Simona, Attarian, Shahram, Wenninger, Stephan, Dearmey, Stephanie, Hiwot, Tarekegn, Burrow, Thomas, Ruck, Tobias, Sawada, Tomo, Laszlo, Vescei, Löscher, Wolfgang, Chien, Yin-Hsiu, Schoser, Benedikt, Roberts, Mark, Byrne, Barry J, Sitaraman, Sheela, Jiang, Hai, Laforêt, Pascal, Toscano, Antonio, Castelli, Jeff, Díaz-Manera, Jordi, Goldman, Mitchell, van der Ploeg, Ans T, Bratkovic, Drago, Kuchipudi, Srilakshmi, Mozaffar, Tahseen, and Kishnani, Priya S

Published
2021
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16. The Relevance of Blepharoptosis in Diagnostic Suspicion of Myopathies

Author

Papadopoulos, Constantinos and Papadimas, George

Subjects
Diagnosis, Case studies, Risk factors, Muscular diseases -- Case studies -- Diagnosis -- Risk factors, Blepharoptosis -- Case studies -- Diagnosis, Muscle diseases -- Case studies -- Diagnosis -- Risk factors
Published
2021

17. Skeletal Myopathy in a Male Patient with Anorexia Nervosa

Author

Papadopoulos, Constantinos, Zouvelou, Vasiliki, and Papadimas, George

Subjects
Eating disorders, Skeletal muscle, Glucose metabolism, Rhabdomyolysis, Electrolytes, Protein-energy malnutrition, Malnutrition, Avitaminosis, Vitamins, Diseases
Published
2020

19. Genotype-phenotype correlations in valosin-containing protein disease

Author

Schiava, Marianela, Ikenaga, Chiseko, Villar-Quiles, Rocío Nur, Caballero-Ávila, Marta, Topf, Ana, Nishino, Ichizo, Kimonis, Virginia, Udd, Bjarne, Schoser, Benedikt, Zanoteli, Edmar, Souza, Paulo Victor Sgobbi, Tasca, Giorgio, Lloyd, Thomas, Lopez-de Munain, Adolfo, Paradas, Carmen, Pegoraro, Elena, Nadaj-Pakleza, Aleksandra, De Bleecker, Jan, Badrising, Umesh, Alonso-Jiménez, Alicia, Kostera-Pruszczyk, Anna, Miralles, Francesc, Shin, Jin-Hong, Bevilacqua, Jorge Alfredo, Olivé, Montse, Vorgerd, Matthias, Kley, Rudi, Brady, Stefen, Williams, Timothy, Domínguez-González, Cristina, Papadimas, George K, Warman-Chardon, Jodi, Claeys, Kristl G, de Visser, Marianne, Muelas, Nuria, LaForet, Pascal, Malfatti, Edoardo, Alfano, Lindsay N, Nair, Sruthi S, Manousakis, Georgios, Kushlaf, Hani A, Harms, Matthew B, Nance, Christopher, Ramos-Fransi, Alba, Rodolico, Carmelo, Hewamadduma, Channa, Cetin, Hakan, García-García, Jorge, Pál, Endre, Farrugia, Maria Elena, Lamont, Phillipa J, Quinn, Colin, Nedkova-Hristova, Velina, Peric, Stojan, Luo, Sushan, Oldfors, Anders, Taylor, Kate, Ralston, Stuart, Stojkovic, Tanya, Weihl, Conrad, Diaz-Manera, Jordi, VCP International Study Group, Schiava, Marianela, Caballero-Ávila, Marta, Nishino, Ichizo, Zanoteli, Edmar, Souza, Paulo Victor Sgobbi, Tasca, Giorgio, Pegoraro, Elena, Shin, Jin-Hong, Domínguez-Gonzalez, Cristina, Claeys, Kristl G., Alfano, Lindsay N., Nair, Sruthi S., Cetin, Hakan, Luo, Sushan, Weihl, Conrad, Díaz-Manera, Jordi, VCP International Study Group, Neurology, and ANS - Neuroinfection & -inflammation

Subjects
Psychiatry and Mental health, MYOPATHY, GENETICS, FRONTOTEMPORAL DEMENTIA, INCL BODY MYOSITIS, MUSCLE DISEASE, Surgery, Human medicine, Neurology (clinical)
Abstract

[ntroduction] Valosin-containing protein (VCP) disease, caused by mutations in the VCP gene, results in myopathy, Paget's disease of bone (PBD) and frontotemporal dementia (FTD). Natural history and genotype-phenotype correlation data are limited. This study characterises patients with mutations in VCP gene and investigates genotype-phenotype correlations., [Methods] Descriptive retrospective study collecting clinical and genetic data from patients with confirmed mutations in the VCP gene in 52 centres from 24 countries., [Results] We included 234 patients (70% males, mean age 55.54 + 9.6 years [y]). Mean age at symptom onset 45.6 + 9.3 y, mean diagnostic delay 7.74 + 6 y, and mean time of disease progression 11.3 + 6.9 y. Disease onset was symmetric lower limb weakness in 50% of the patients progressing towards generalized muscle weakness affecting proximal and distal lower and upper limb muscles. Other clinical features included: respiratory symptoms in 40.3%, PBD in 26.7%, dysautonomia in 21.4%, upper and lower motor neuron signs in 13.3% and 21.85%, and FTD in 13.9% of the patient. Fifty-eight genetic variants were identified being the most frequent the c.464G>A, p.Arg155His in 28% of the patients and the c.463C>T, p.Arg155Cys in 11.1%. Twenty new mutations were identified. The c.463C>T, p.Arg155Cys variant had the earliest age of onset (37.8 + 7.6 y) among the 4 most frequent variants and a higher frequency of axial weakness, distal upper limb weakness, scapula winging and mix cognitive. 19.1% of the patients were full time wheelchair users and 4.0% (9/225) were bedridden at a median of 8.5 y and 15 y from onset. Thirty–seven patients died at a mean age of 63.9 + 8.1 and at a mean of 15.8 + 6.6 y from disease onset, 7 due to respiratory insufficiency and 5 due to rapidly progressive dementia. The presence of a FVC< 50% was associated with being full time wheelchair user/ bedridden and the presence of a FVC, [Conclusion] The heterogeneous clinical features of VCP could resemble other neuromuscular conditions. The c.463C>T p.Arg155Cys variant seems to have an earlier age of onset and more severe phenotype. Presence of FVC

Published
2022

20. Identification of exosomal muscle-specific miRNAs in serum of myotonic dystrophy patients relating to muscle disease progress

Author

Koutsoulidou, Andrie, Photiades, Marinos, Kyriakides, Tassos C., Georgiou, Kristia, Prokopi, Marianna, Kapnisis, Konstantinos, Łusakowska, Anna, Nearchou, Marianna, Christou, Yiolanda, Papadimas, George K., Anayiotos, Andreas, Kyriakou, Kyriakos, Kararizou, Evangelia, Zamba Papanicolaou, Eleni, and Phylactou, Leonidas A.

Published
2017
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21. Genotype-phenotype correlations in valosin-containing protein disease: a retrospective muticentre study

Author

Schiava, Marianela [0000-0002-2709-265X], Caballero-Ávila, Marta [0000-0001-9850-8504], Nishino, Ichizo [0000-0001-9452-112X], Zanoteli, Edmar [0000-0002-4991-6760], Souza, Paulo Victor Sgobbi [0000-0002-7416-7108], Tasca, Giorgio [0000-0003-0849-9144], Pegoraro, Elena [0000-0002-7740-4156], Shin, Jin-Hong [0000-0002-5174-286X], Domínguez-Gonzalez, Cristina [0000-0001-5151-988X], Claeys, Kristl G. [0000-0001-9937-443X], Alfano, Lindsay N. [0000-0002-2263-7569], Nair, Sruthi S. [0000-0001-5463-5229], Cetin, Hakan [0000-0001-9009-7261], Luo, Sushan [0000-0002-9033-7568], Weihl, Conrad [0000-0002-3816-6124], Díaz-Manera, Jordi [0000-0003-2941-7988], Schiava, Marianela, Ikenaga, Chiseko, Villar-Quiles, Rocío Nur, Caballero-Ávila, Marta, Topf, Ana, Nishino, Ichizo, Kimonis, Virginia, Udd, Bjarne, Schoser, Benedikt, Zanoteli, Edmar, Souza, Paulo Victor Sgobbi, Tasca, Giorgio, Lloyd, Thomas, López de Munain, Adolfo, Paradas, Carmen, Pegoraro, Elena, Nadaj-Pakleza, Aleksandra, De Bleecker, Jan, Badrising, Umesh, Alonso, Alicia, Kostera-Pruszczyk, Anna, Miralles, Francesc, Shin, Jin-Hong, Bevilacqua, Jorge Alfredo, Olivé, Montse, Vorgerd, Matthias, Kley, Rudi, Brady, Stefen, Williams, Timothy, Domínguez-Gonzalez, Cristina, Papadimas, George K., Warman-Chardon, Jodi, Claeys, Kristl G., Visser, Marianne de, Muelas, Nuria, LaForet, Pascal, Malfatti, Edoardo, Alfano, Lindsay N., Nair, Sruthi S., Manousakis, Georgios, Kushlaf, Hani A., Harms, Matthew B., Nance, Christopher, Ramos-Fransi, Alba, Rodolico, Carmelo, Hewamadduma, Channa, Cetin, Hakan, García-García, Jorge, Pál, Endre, Farrugia, Maria Elena, Lamont, Phillipa J., Quinn, Colin, Nedkova, Velina, Peric, Stojan, Luo, Sushan, Oldfors, Anders, Taylor, Kate, Ralston, Stuart, Stojkovic, Tanya, Weihl, Conrad, Díaz-Manera, Jordi, VCP International Study Group, Schiava, Marianela [0000-0002-2709-265X], Caballero-Ávila, Marta [0000-0001-9850-8504], Nishino, Ichizo [0000-0001-9452-112X], Zanoteli, Edmar [0000-0002-4991-6760], Souza, Paulo Victor Sgobbi [0000-0002-7416-7108], Tasca, Giorgio [0000-0003-0849-9144], Pegoraro, Elena [0000-0002-7740-4156], Shin, Jin-Hong [0000-0002-5174-286X], Domínguez-Gonzalez, Cristina [0000-0001-5151-988X], Claeys, Kristl G. [0000-0001-9937-443X], Alfano, Lindsay N. [0000-0002-2263-7569], Nair, Sruthi S. [0000-0001-5463-5229], Cetin, Hakan [0000-0001-9009-7261], Luo, Sushan [0000-0002-9033-7568], Weihl, Conrad [0000-0002-3816-6124], Díaz-Manera, Jordi [0000-0003-2941-7988], Schiava, Marianela, Ikenaga, Chiseko, Villar-Quiles, Rocío Nur, Caballero-Ávila, Marta, Topf, Ana, Nishino, Ichizo, Kimonis, Virginia, Udd, Bjarne, Schoser, Benedikt, Zanoteli, Edmar, Souza, Paulo Victor Sgobbi, Tasca, Giorgio, Lloyd, Thomas, López de Munain, Adolfo, Paradas, Carmen, Pegoraro, Elena, Nadaj-Pakleza, Aleksandra, De Bleecker, Jan, Badrising, Umesh, Alonso, Alicia, Kostera-Pruszczyk, Anna, Miralles, Francesc, Shin, Jin-Hong, Bevilacqua, Jorge Alfredo, Olivé, Montse, Vorgerd, Matthias, Kley, Rudi, Brady, Stefen, Williams, Timothy, Domínguez-Gonzalez, Cristina, Papadimas, George K., Warman-Chardon, Jodi, Claeys, Kristl G., Visser, Marianne de, Muelas, Nuria, LaForet, Pascal, Malfatti, Edoardo, Alfano, Lindsay N., Nair, Sruthi S., Manousakis, Georgios, Kushlaf, Hani A., Harms, Matthew B., Nance, Christopher, Ramos-Fransi, Alba, Rodolico, Carmelo, Hewamadduma, Channa, Cetin, Hakan, García-García, Jorge, Pál, Endre, Farrugia, Maria Elena, Lamont, Phillipa J., Quinn, Colin, Nedkova, Velina, Peric, Stojan, Luo, Sushan, Oldfors, Anders, Taylor, Kate, Ralston, Stuart, Stojkovic, Tanya, Weihl, Conrad, Díaz-Manera, Jordi, and VCP International Study Group

Abstract

[ntroduction] Valosin-containing protein (VCP) disease, caused by mutations in the VCP gene, results in myopathy, Paget's disease of bone (PBD) and frontotemporal dementia (FTD). Natural history and genotype-phenotype correlation data are limited. This study characterises patients with mutations in VCP gene and investigates genotype-phenotype correlations., [Methods] Descriptive retrospective study collecting clinical and genetic data from patients with confirmed mutations in the VCP gene in 52 centres from 24 countries., [Results] We included 234 patients (70% males, mean age 55.54 + 9.6 years [y]). Mean age at symptom onset 45.6 + 9.3 y, mean diagnostic delay 7.74 + 6 y, and mean time of disease progression 11.3 + 6.9 y. Disease onset was symmetric lower limb weakness in 50% of the patients progressing towards generalized muscle weakness affecting proximal and distal lower and upper limb muscles. Other clinical features included: respiratory symptoms in 40.3%, PBD in 26.7%, dysautonomia in 21.4%, upper and lower motor neuron signs in 13.3% and 21.85%, and FTD in 13.9% of the patient. Fifty-eight genetic variants were identified being the most frequent the c.464G>A, p.Arg155His in 28% of the patients and the c.463C>T, p.Arg155Cys in 11.1%. Twenty new mutations were identified. The c.463C>T, p.Arg155Cys variant had the earliest age of onset (37.8 + 7.6 y) among the 4 most frequent variants and a higher frequency of axial weakness, distal upper limb weakness, scapula winging and mix cognitive. 19.1% of the patients were full time wheelchair users and 4.0% (9/225) were bedridden at a median of 8.5 y and 15 y from onset. Thirty–seven patients died at a mean age of 63.9 + 8.1 and at a mean of 15.8 + 6.6 y from disease onset, 7 due to respiratory insufficiency and 5 due to rapidly progressive dementia. The presence of a FVC< 50% was associated with being full time wheelchair user/ bedridden and the presence of a FVC<70% and being full-time wheelchair/bedridden were associated with death., [Conclusion] The heterogeneous clinical features of VCP could resemble other neuromuscular conditions. The c.463C>T p.Arg155Cys variant seems to have an earlier age of onset and more severe phenotype. Presence of FVC<50% is a independent risk factor for loss of ambulation and FVC<70% and FTD are independent risk factor for death.

Published
2022

23. Circulating small RNA signatures differentiate accurately the subtypes of muscular dystrophies: small-RNA next-generation sequencing analytics and functional insights

Author

Kakouri, Andrea C., primary, Koutalianos, Demetris, additional, Koutsoulidou, Andrie, additional, Oulas, Anastasis, additional, Tomazou, Marios, additional, Nikolenko, Nikoletta, additional, Turner, Chris, additional, Roos, Andreas, additional, Lusakowska, Anna, additional, Janiszewska, Katarzyna, additional, Papadimas, George K., additional, Papadopoulos, Constantinos, additional, Kararizou, Evangelia, additional, Papanicolaou, Eleni Zamba, additional, Gorman, Grainne, additional, Lochmüller, Hanns, additional, Spyrou, George M., additional, and Phylactou, Leonidas A., additional

Published
2022
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24. Editorial: Current and Future Developments in the Therapeutic Management of Neuromuscular Diseases

Author

Papadimas, George K., Pons, Roser, Palmio, Johanna, Tampere University, Department of Neurosciences and Rehabilitation, and Clinical Medicine

Subjects
treatment, Neurology, neuromuscular diseases, neuropathy, Neurology. Diseases of the nervous system, Neurology (clinical), RC346-429, 3124 Neurology and psychiatry, myopathy, myasthenia
Abstract

publishedVersion Non

Published
2022
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25. Different eccentric‐based power training volumes improve glycemic, lipidemic profile and body composition of females in a dose‐dependent manner: Associations with muscle fibres composition adaptations

Author

Methenitis, Spyridon, primary, Nomikos, Tzortzis, additional, Mpampoulis, Thomas, additional, Kontou, Eleni, additional, Kiourelli, Kleio‐Maria, additional, Evangelidou, Eftychia, additional, Papadopoulos, Constantinos, additional, Papadimas, George, additional, and Terzis, Gerasimos, additional

Published
2022
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26. A novel homozygousALPK3variant associated with cardiomyopathy and skeletal muscle involvement

Author

Papadopoulos, Constantinos, primary, Kekou, Kiriaki, additional, Anastasakis, Aris, additional, Svingou, Maria, additional, Malfatti, Edoardo, additional, Metay, Corinne, additional, Chrysanthou, Margarita, additional, Paschou, Christina, additional, Miliopoulos, Dimitris, additional, Efthimiadis, Georgios, additional, Adamopoulos, Stamatios, additional, and Papadimas, George, additional

Published
2021
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27. Safety and efficacy of cipaglucosidase alfa plus miglustat versus alglucosidase alfa plus placebo in late-onset Pompe disease (PROPEL): an international, randomised, double-blind, parallel-group, phase 3 trial

Author

Schoser, Benedikt, primary, Roberts, Mark, additional, Byrne, Barry J, additional, Sitaraman, Sheela, additional, Jiang, Hai, additional, Laforêt, Pascal, additional, Toscano, Antonio, additional, Castelli, Jeff, additional, Díaz-Manera, Jordi, additional, Goldman, Mitchell, additional, van der Ploeg, Ans T, additional, Bratkovic, Drago, additional, Kuchipudi, Srilakshmi, additional, Mozaffar, Tahseen, additional, Kishnani, Priya S, additional, Sebok, Agnes, additional, Pestronk, Alan, additional, Dominovic-Kovacevic, Aleksandra, additional, Khan, Aneal, additional, Koritnik, Blaž, additional, Tard, Celine, additional, Lindberg, Christopher, additional, Quinn, Colin, additional, Eldridge, Crystal, additional, Bodkin, Cynthia, additional, Reyes-Leiva, David, additional, Hughes, Derralynn, additional, Stefanescu, Ela, additional, SALORT-CAMPANA, Emmanuelle, additional, Butler, Ernest, additional, Bouhour, Francoise, additional, Kim, Gee, additional, Konstantinos Papadimas, George, additional, Parenti, Giancarlo, additional, Bartosik-Psujek, Halina, additional, Kushlaf, Hani, additional, Akihiro, Hashiguchi, additional, Lau, Heather, additional, Pedro, Helio, additional, Andersen, Henning, additional, Amartino, Hernan, additional, Shiraishi, Hideaki, additional, Kobayashi, Hiroshi, additional, Tarnev, Ivaylo, additional, Vengoechea, Jaime, additional, Avelar, Jennifer, additional, Shin, Jin-Hong, additional, Cauci, Jonathan, additional, Alonso-Pérez, Jorge, additional, Janszky, Jozsef, additional, Berthy, Julie, additional, Cornelia, Kornblum, additional, Gutschmidt, Kristina, additional, Claeys, Kristl, additional, Judit Molnar, Maria, additional, Wencel, Marie, additional, Tarnopolsky, Mark, additional, Dimachkie, Mazen, additional, Tchan, Michel, additional, Freimer, Miriam, additional, Longo, Nicola, additional, Vidal-Fernandez, Nuria, additional, Musumeci, Olimpia, additional, Goker-Alpan, Ozlem, additional, Deegan, Patrick, additional, Clemens, Paula R., additional, Roxburgh, Richard, additional, Henderson, Robert, additional, Hopkin, Robert, additional, Sacconi, Sabrina, additional, Fecarotta, Simona, additional, Attarian, Shahram, additional, Wenninger, Stephan, additional, Dearmey, Stephanie, additional, Hiwot, Tarekegn, additional, Burrow, Thomas, additional, Ruck, Tobias, additional, Sawada, Tomo, additional, Laszlo, Vescei, additional, Löscher, Wolfgang, additional, and Chien, Yin-Hsiu, additional

Published
2021
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30. Different eccentric-based power training volumes improve glycemic, lipidemic profile and body composition of females in a dose-dependent manner: Associations with muscle fibres composition adaptations.

Author

Methenitis, Spyridon, Nomikos, Tzortzis, Mpampoulis, Thomas, Kontou, Eleni, Kiourelli, Kleio-Maria, Evangelidou, Eftychia, Papadopoulos, Constantinos, Papadimas, George, and Terzis, Gerasimos

Subjects
LIPID metabolism, GLUCOSE metabolism, MUSCLE physiology, MUSCLE anatomy, RESISTANCE training, FASTING, RESEARCH, MUSCLE contraction, EXERCISE physiology, WOMEN, BLOOD sugar, COMPARATIVE studies, INSULIN sensitivity, EXERCISE intensity, RESEARCH funding, STATISTICAL correlation, DOSE-response relationship in biochemistry, LIPIDS, ADIPOSE tissues
Abstract

The present study aimed to investigate the effect of different volumes of fast eccentric-based training on body composition and lipidemic–glycemic profiles in females, as well as to explore the relationship between the change in glycemic–lipidemic profiles and the change in muscle fibre composition. Twenty-nine young females were assigned into three groups and performed 10 weeks (2 training sessions per week) of either 3 (LV), 6 (MV) or 9 (HV) sets/session of four fast velocity eccentric-only half-squats against 70% of concentric 1RM, followed by 3 maximum countermovement jumps (CMJ) after each set. Body composition, vastus lateralis fibre-type composition, and resting blood lipidemic and glycemic indices were evaluated 1 week before and after the training intervention. Significant changes in body composition, fasting glucose, HOMA-IR and blood lipids were found after training with MV and HV (p < 0.05; η2: 0.135–0.390). Significant correlations were found between muscle fibres' percentage cross-sectional areas (%CSA) and resting glycemic–lipid values (r:−0.543to 0.730, p < 0.05). Training-induced changes of glycemic-lipid profiles were highly correlated to those of type IIa and IIx %CSAs (r: −0.895 to 0.898, p < 0.05). Partial Correlations revealed a significant impact of the imposed training volumes on these correlations. These results suggest that six but mostly nine sets per training session of the imposed training stimuli are needed for beneficial changes in resting glycemic–lipidemic profiles, changes which are related to the training-induced changes in muscle fibre composition. However, these relationships are dictated by the imposed training volumes. Highlights Power training induces beneficial changes in body composition, glycemic and lipidemic profiles. Greater training volumes are needed for the healthier changes in glycemic–lipidemic profiles. Higher Type I, IIA and lower IIX percentage cross-sectional areas are linked with healthier body composition and glycemic-lipidemic profiles. Individuals experiencing the greatest increase in Type IIa and decrease in Type IIX muscle fibres cross-sectional areas after power training are those with the greatest beneficial changes in body composition, glycemic and lipidemic profiles. [ABSTRACT FROM AUTHOR]

Published
2023
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31. Why should neuropsychological assessment always be considered in Myotonic Dystrophy Type 2? An overview of patients' cognitive profile

Author

Theodosiou, Thomas, Christidi, Foteini, Xirou, Sofia, Bede, Peter, Karavasilis, Efstratios, Papadopoulos, Constantinos, Kourtesis, Panagiotis, Pantolewn, Varvara, Kararizou, Evangelia, Papadimas, George, Zalonis, Ioannis, National and Kapodistrian University of Athens (NKUA), Trinity College Dublin, 3D interaction with virtual environments using body and mind (Hybrid), Inria Rennes – Bretagne Atlantique, Institut National de Recherche en Informatique et en Automatique (Inria)-Institut National de Recherche en Informatique et en Automatique (Inria)-MEDIA ET INTERACTIONS (IRISA-D6), Institut de Recherche en Informatique et Systèmes Aléatoires (IRISA), Université de Bretagne Sud (UBS)-Institut National des Sciences Appliquées - Rennes (INSA Rennes), Institut National des Sciences Appliquées (INSA)-Université de Rennes (UNIV-RENNES)-Institut National des Sciences Appliquées (INSA)-Université de Rennes (UNIV-RENNES)-Institut National de Recherche en Informatique et en Automatique (Inria)-École normale supérieure - Rennes (ENS Rennes)-Centre National de la Recherche Scientifique (CNRS)-Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-CentraleSupélec-IMT Atlantique Bretagne-Pays de la Loire (IMT Atlantique), Institut Mines-Télécom [Paris] (IMT)-Institut Mines-Télécom [Paris] (IMT)-Université de Bretagne Sud (UBS)-Institut National des Sciences Appliquées - Rennes (INSA Rennes), Institut Mines-Télécom [Paris] (IMT)-Institut Mines-Télécom [Paris] (IMT)-Institut de Recherche en Informatique et Systèmes Aléatoires (IRISA), Institut National des Sciences Appliquées (INSA)-Université de Rennes (UNIV-RENNES)-Institut National des Sciences Appliquées (INSA)-Université de Rennes (UNIV-RENNES)-École normale supérieure - Rennes (ENS Rennes)-Centre National de la Recherche Scientifique (CNRS)-Université de Rennes 1 (UR1), Institut Mines-Télécom [Paris] (IMT)-Institut Mines-Télécom [Paris] (IMT), Université de Rennes (UR)-Institut National des Sciences Appliquées - Rennes (INSA Rennes), Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Université de Bretagne Sud (UBS)-École normale supérieure - Rennes (ENS Rennes)-Institut National de Recherche en Informatique et en Automatique (Inria)-CentraleSupélec-Centre National de la Recherche Scientifique (CNRS)-IMT Atlantique (IMT Atlantique), Institut Mines-Télécom [Paris] (IMT)-Institut Mines-Télécom [Paris] (IMT)-Université de Rennes (UR)-Institut National des Sciences Appliquées - Rennes (INSA Rennes), and Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Université de Bretagne Sud (UBS)-École normale supérieure - Rennes (ENS Rennes)-CentraleSupélec-Centre National de la Recherche Scientifique (CNRS)-IMT Atlantique (IMT Atlantique)

Subjects
cognitive deficits, neuropsychological assessment, [SCCO]Cognitive science, [SCCO.NEUR]Cognitive science/Neuroscience, [SCCO.PSYC]Cognitive science/Psychology, Myotonic Dystrophy Type 2, neuroimaging data, clinical practice
Abstract

International audience; Objectives and background: Myotonic Dystrophies (DM) are hereditary, multisystem, slowly progressive myopathies that also affect the central nervous system. In contrast to the well-established cognitive profile of Myotonic Dystrophy Type 1 (DM1), only few studies investigated cognitive dysfunction in Myotonic Dystrophy Type 2 (DM2), and their findings are inconsistent. We have therefore performed a formal comprehensive review of available studies in DM2 to identify the most commonly affected cognitive domains. Methods: An advanced search was conducted on PubMed with the terms "myotonic dystrophy type 2" AND "cognitive deficits", "cognitive", "cognition", "neuropsychological", "neurocognitive", "neurobehavioral" in all fields. All available original research articles (13) and 1 case study, 14 in total, were included and thoroughly studied. Results: Most research studies indicate primary cognitive deficits in executive functions (dysexecutive syndrome), memory (short term nonverbal, verbal episodic memory), visuo-spatial/constructivemotor functions and attention while language is rarely reported to be affected. Cognitive profile is associated with brain abnormalities in several secondary and high-order cortical and subcortical regions and associative white matter tracts based on the few neuroimaging and/or multimodal studies. The limited sample size of DM2 patients is the most prominent limitation on current literature. Conclusions: The multifaceted profile of cognitive deficits highlights the need for routine neuropsychological evaluation in DM2 that could unveil patients' strengths and impairments at baseline and to be carefully monitored over time.

Published
2021
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32. miR-223-3p and miR-24-3p as novel serum-based biomarkers for myotonic dystrophy type 1

Author

Koutalianos, Demetris Koutsoulidou, Andrie Mytidou, Chrystalla and Kakouri, Andrea C. Oulas, Anastasis Tomazou, Marios and Kyriakides, Tassos C. Prokopi, Marianna Kapnisis, Konstantinos and Nikolenko, Nikoletta Turner, Chris Lusakowska, Anna and Janiszewska, Katarzyna Papadimas, George K. Papadopoulos, Constantinos Kararizou, Evangelia Spyrou, George M. Gourdon, Genevieve Papanicolaou, Eleni Zamba Gorman, Grainne and Anayiotos, Andreas Lochmueller, Hanns Phylactou, Leonidas A.

Subjects
musculoskeletal diseases, congenital, hereditary, and neonatal diseases and abnormalities
Abstract

Myotonic dystrophy type 1 (DM1) is the most common adult-onset muscular dystrophy, primarily characterized by muscle wasting and weakness. Many biomarkers already exist in the rapidly developing biomarker research field that aim to improve patients' care. Limited work, however, has been performed on rare diseases, including DM1. We have previously shown that specific microRNAs (miRNAs) can be used as potential biomarkers for DM1 progression. In this report, we aimed to identify novel serum-based biomarkers for DM1 through high-throughput next-generation sequencing. A number of miRNAs were identified that are able to distinguish DM1 patients from healthy individuals. Two miRNAs were selected, and their association with the disease was validated in a larger panel of patients. Further investigation of miR-223-3p, miR-24-3p, and the four previously identified miRNAs, miR-1-3p, miR-133a-3p, miR133b-3p, and miR-206-3p, showed elevated levels in a DM1 mouse model for all six miRNAs circulating in the serum compared to healthy controls. Importantly, the levels of miR-223-3p, but not the other five miRNAs, were found to be significantly downregulated in five skeletal muscles and heart tissues of DM1 mice compared to controls. This result provides significant evidence for its involvement in disease manifestation.

Published
2021

33. The Relevance of Blepharoptosis in Diagnostic Suspicion of Myopathies

Author

Papadopoulos, Constantinos Papadimas, George K.

Abstract

Blepharoptosis (ptosis) is classified, based on etiology, into mechanical, cerebral, neurogenic, neuromuscular, myogenic, and due to miscellaneous causes. Primary myopathic diseases are rare causes of blepharoptosis and many patients with myogenic ptosis undergo a series of extensive investigations before a myopathy is being considered. In this study, we report four patients with different myopathic disorders who had blepharoptosis as a presenting symptom of their disease. Moreover, we highlight frequent diagnostic errors and difficulties in patients with myopathies who present blepharoptosis. Lack of clear cut aggravation of symptoms by fatigue and response to cholinesterase inhibitors treatment, the association of proximal, distal or extraocular muscle weakness, and positive family history or evidence of a multi systemic disorder should prompt evaluation of an underlying myopathy.

Published
2021

36. Mild myopathic phenotype in a patient with homozygous c.416C > T mutation in TK2 gene

Author

Papadimas, George K., Vargiami, Efthimia, Dragoumi, Pinelopi, Van Coster, Rudy, Smet, Joél, Seneca, Sara, Papadopoulos, Constantinos, Kararizou, Evangelia, Zafeiriou, Dimitrios, Clinical sciences, Medical Genetics, and Reproduction and Genetics

Subjects
TK2, Medicine and Health Sciences, Genetics(clinical), mtDNA depletion syndrome, reproductive medicine
Abstract

The mitochondrial DNA depletion syndrome (MDDS) is characterized by extensive phenotypic variability and is due to nuclear gene mutations resulting in reduced mtDNA copy number. Thymidine kinase 2 (TK2) mutations are well known to be associated with MDDS. Few severely affected cases carrying the c.416C > T mutation in TK2 gene have been described so far. We describe the case of a 14months boy with the aforementioned TK2 gene pathogenic mutation at a homozygous state, presenting with a mild clinical phenotype. In addition to severe mitochondrial pathology on muscle biopsy, there was also histochemical evidence of adenylate deaminase deficiency. Overall, this report serves to further expand the clinical spectrum of TK2 mutations associated with MDDS.

Published
2020

46. Muscle fiber composition, jumping performance, and rate of force development adaptations induced by different power training volumes in females

Author

Methenitis, Spyridon, primary, Mpampoulis, Thomas, additional, Spiliopoulou, Polyxeni, additional, Papadimas, George, additional, Papadopoulos, Constantinos, additional, Chalari, Eleanna, additional, Evangelidou, Eftychia, additional, Stasinaki, Angeliki-Nikoletta, additional, Nomikos, Tzortzis, additional, and Terzis, Gerasimos, additional

Published
2020
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47. Evaluation of Genotypes and Epidemiology of Spinal Muscular Atrophy in Greece: A Nationwide Study Spanning 24 Years

Author

Kekou, Kyriaki, primary, Svingou, Maria, additional, Sofocleous, Christalena, additional, Mourtzi, Niki, additional, Nitsa, Evangelia, additional, Konstantinidis, George, additional, Youroukos, Sotiris, additional, Skiadas, Konstantinos, additional, Katsalouli, Marina, additional, Pons, Roser, additional, Papavasiliou, Antigoni, additional, Kotsalis, Charalabos, additional, Pavlou, Evangelos, additional, Evangeliou, Athanasios, additional, Katsarou, Efstathia, additional, Voudris, Konstantinos, additional, Dinopoulos, Argirios, additional, Vorgia, Pelagia, additional, Niotakis, George, additional, Diamantopoulos, Nikolaos, additional, Nakou, Iliada, additional, Koute, Vasiliki, additional, Vartzelis, George, additional, Papadimas, George-Konstantinos, additional, Papadopoulos, Constantinos, additional, Tsivgoulis, Georgios, additional, and Traeger-Synodinos, Joanne, additional

Published
2020
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