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1. Detection of gene variants associated with recessive limb–girdle muscular weakness and Pompe disease in a global cohort of patients through the application of next-generation sequencing analysis.

Author

Bevilacqua, Jorge Alfredo, Al-Salti, Abdullah Mohammed, Al Madani, Abubaker, Alves da Fonseca, Armando, Durmus, Hacer, Chai, Josiah, Alshehri, Ali, Ribeiro, Márcia Gonçalves, Sgobbi, Paulo, Nikitin, Sergey S., Vargas, Steven, Furtado, Adriana, Thibault, Nathan, Araujo, Roberto, and Daba, Nadia

Abstract

Introduction: Hereditary myopathies arise due to numerous pathogenic variants occurring in distinct genes, which amount to several hundred. Limb–girdle muscular dystrophies (LGMDs) constitute a heterogeneous group of neuromuscular disorders involving more than 30 genes. Clinically, LGMD is characterized by limb–girdle muscular weakness (LGMW). Late-onset Pompe disease is an important disorder with a differential diagnosis for LGMD, where next-generation sequencing (NGS) plays a crucial role in accurate and prompt diagnosis. The sensitivity and specificity of a 10-gene NGS panel have been previously evaluated for the prevalent forms of recessive LGMD (LGMD-R) and Pompe disease in Latin American patients with LGMW of unknown cause. This project aims to identify the regional relative prevalence of frequent LGMD-R subtypes and Pompe disease in a larger geographic area and to diagnose patients with LGMW by identifying genetic variants of LGMD-R and Pompe disease. Methods and Results: This 21-country multicentric analysis enrolled 2,372 patients with LGMW from 2017 to 2018. Sequencing analysis was performed using the Illumina NextSeq 500 system, and variant interpretation was performed according to the American College of Medical Genetics and Genomics guidelines. Pathogenic or likely pathogenic variants were seen in 11% of patients (n = 261). Among the positive cases, NGS effectively diagnosed 86.2% and 13.8% of patients with LGMD and Pompe disease, respectively. The most prevalent pathogenic acid α-glucosidase (GAA) variant identified was c.-32-13T > G. Conclusion: The study adds to the knowledge of the relative occurrence of various subtypes of LGMD worldwide. The inclusion of GAA in the NGS panel to investigate patients with LGMW is a powerful diagnostic approach to screen for late-onset Pompe disease. [ABSTRACT FROM AUTHOR]

Published
2024
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3. 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

4. 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

5. Muscle MRI in a large cohort of patients with oculopharyngeal muscular dystrophy

Author

Alonso-Jimenez, Alicia, Kroon, Rosemarie H M J M, Alejaldre-Monforte, Aida, Nuñez-Peralta, Claudia, Horlings, Corinne G C, van Engelen, Baziel G M, Olivé, Montse, González, Laura, Verges-Gil, Enric, Paradas, Carmen, Márquez, Celedonio, Garibaldi, Matteo, Gallano, Pía, Rodriguez, Maria José, Gonzalez-Quereda, Lidia, Dominguez Gonzalez, Cristina, Vissing, John, Fornander, Freja, Eisum, Anne-Sofie Vibæk, García-Sobrino, Tania, Pardo, Julio, García-Figueiras, Roberto, Muelas, Nuria, Vilchez, Juan Jesús, Kapetanovic, Solange, Tasca, Giorgio, Monforte, Mauro, Ricci, Enzo, Gomez, María Teresa, Bevilacqua, Jorge Alfredo, Diaz-Jara, Jorge, Zamorano, Ivonne Ingrid, Carlier, Robert Yves, Laforet, Pascal, Pelayo-Negro, Ana, Ramos-Fransi, Alba, Martínez, Amaia, Marini-Bettolo, Chiara, Straub, Volker, Gutiérrez, Gerardo, Stojkovic, Tanya, Martín, María Asunción, Morís, Germán, Fernández-Torrón, Roberto, Lopez De Munaín, Adolfo, Cortes-Vicente, Elena, Querol, Luis, Rojas-García, Ricardo, Illa, Isabel, Diaz-Manera, Jordi, Alonso-Jimenez, Alicia, Kroon, Rosemarie H M J M, Alejaldre-Monforte, Aida, Nuñez-Peralta, Claudia, Horlings, Corinne G C, van Engelen, Baziel G M, Olivé, Montse, González, Laura, Verges-Gil, Enric, Paradas, Carmen, Márquez, Celedonio, Garibaldi, Matteo, Gallano, Pía, Rodriguez, Maria José, Gonzalez-Quereda, Lidia, Dominguez Gonzalez, Cristina, Vissing, John, Fornander, Freja, Eisum, Anne-Sofie Vibæk, García-Sobrino, Tania, Pardo, Julio, García-Figueiras, Roberto, Muelas, Nuria, Vilchez, Juan Jesús, Kapetanovic, Solange, Tasca, Giorgio, Monforte, Mauro, Ricci, Enzo, Gomez, María Teresa, Bevilacqua, Jorge Alfredo, Diaz-Jara, Jorge, Zamorano, Ivonne Ingrid, Carlier, Robert Yves, Laforet, Pascal, Pelayo-Negro, Ana, Ramos-Fransi, Alba, Martínez, Amaia, Marini-Bettolo, Chiara, Straub, Volker, Gutiérrez, Gerardo, Stojkovic, Tanya, Martín, María Asunción, Morís, Germán, Fernández-Torrón, Roberto, Lopez De Munaín, Adolfo, Cortes-Vicente, Elena, Querol, Luis, Rojas-García, Ricardo, Illa, Isabel, and Diaz-Manera, Jordi

Abstract

BACKGROUND AND OBJECTIVE: Oculopharyngeal muscular dystrophy (OPMD) is a genetic disorder caused by an abnormal expansion of GCN triplets within the PABPN1 gene. Previous descriptions have focused on lower limb muscles in small cohorts of patients with OPMD, but larger imaging studies have not been performed. Previous imaging studies have been too small to be able to correlate imaging findings to genetic and clinical data.METHODS: We present cross-sectional, T1-weighted muscle MRI and CT-scan data from 168 patients with genetically confirmed OPMD. We have analysed the pattern of muscle involvement in the disease using hierarchical analysis and presented it as heatmaps. Results of the scans were correlated with genetic and clinical data.RESULTS: Fatty replacement was identified in 96.7% of all symptomatic patients. The tongue, the adductor magnus and the soleus were the most commonly affected muscles. Muscle pathology on MRI correlated positively with disease duration and functional impairment.CONCLUSIONS: We have described a pattern that can be considered characteristic of OPMD. An early combination of fat replacement in the tongue, adductor magnus and soleus can be helpful for differential diagnosis. The findings suggest the natural history of the disease from a radiological point of view. The information generated by this study is of high diagnostic value and important for clinical trial development.

Published
2019

6. Hereditary Myopathies

Author

González-Jamett, Arlek Marion, Bevilacqua, Jorge Alfredo, and Díaz, Ana María Cárdenas

Subjects
0301 basic medicine, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, GeneralLiterature_REFERENCE(e.g.,dictionaries,encyclopedias,glossaries), 030217 neurology & neurosurgery
Published
2018
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