-
Je něco špatně v tomto záznamu ?
New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy
J. Alonso-Pérez, L. González-Quereda, L. Bello, M. Guglieri, V. Straub, P. Gallano, C. Semplicini, E. Pegoraro, V. Zangaro, A. Nascimento, C. Ortez, GP. Comi, LT. Dam, M. De Visser, AJ. van der Kooi, C. Garrido, M. Santos, U. Schara, A. Gangfuß,...
Jazyk angličtina Země Velká Británie
Typ dokumentu časopisecké články, multicentrická studie, pozorovací studie, práce podpořená grantem
NLK
Free Medical Journals
od 1996 do Před 1 rokem
Open Access Digital Library
od 1996-01-01
PubMed
32875335
DOI
10.1093/brain/awaa228
Knihovny.cz E-zdroje
- MeSH
- dítě MeSH
- dospělí MeSH
- genetické asociační studie * metody MeSH
- kohortové studie MeSH
- lidé středního věku MeSH
- lidé MeSH
- mladiství MeSH
- mladý dospělý MeSH
- pletencové svalové dystrofie diagnóza epidemiologie genetika MeSH
- předškolní dítě MeSH
- retrospektivní studie MeSH
- sarkoglykanopatie diagnóza epidemiologie genetika MeSH
- senioři MeSH
- Check Tag
- dítě MeSH
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- mladiství MeSH
- mladý dospělý MeSH
- mužské pohlaví MeSH
- předškolní dítě MeSH
- senioři MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- multicentrická studie MeSH
- pozorovací studie MeSH
- práce podpořená grantem MeSH
- Geografické názvy
- Evropa MeSH
Sarcoglycanopathies comprise four subtypes of autosomal recessive limb-girdle muscular dystrophies (LGMDR3, LGMDR4, LGMDR5 and LGMDR6) that are caused, respectively, by mutations in the SGCA, SGCB, SGCG and SGCD genes. In 2016, several clinicians involved in the diagnosis, management and care of patients with LGMDR3-6 created a European Sarcoglycanopathy Consortium. The aim of the present study was to determine the clinical and genetic spectrum of a large cohort of patients with sarcoglycanopathy in Europe. This was an observational retrospective study. A total of 33 neuromuscular centres from 13 different European countries collected data of the genetically confirmed patients with sarcoglycanopathy followed-up at their centres. Demographic, genetic and clinical data were collected for this study. Data from 439 patients from 13 different countries were collected. Forty-three patients were not included in the analysis because of insufficient clinical information available. A total of 159 patients had a confirmed diagnosis of LGMDR3, 73 of LGMDR4, 157 of LGMDR5 and seven of LGMDR6. Patients with LGMDR3 had a later onset and slower progression of the disease. Cardiac involvement was most frequent in LGMDR4. Sixty per cent of LGMDR3 patients carried one of the following mutations, either in a homozygous or heterozygous state: c.229C>T, c.739G>A or c.850C>T. Similarly, the most common mutations in LMGDR5 patients were c.525delT or c.848G>A. In LGMDR4 patients the most frequent mutation was c.341C>T. We identified onset of symptoms before 10 years of age and residual protein expression lower than 30% as independent risk factors for losing ambulation before 18 years of age, in LGMDR3, LGMDR4 and LGMDR5 patients. This study reports clinical, genetic and protein data of a large European cohort of patients with sarcoglycanopathy. Improving our knowledge about these extremely rare autosomal recessive forms of LGMD was helped by a collaborative effort of neuromuscular centres across Europe. Our study provides important data on the genotype-phenotype correlation that is relevant for the design of natural history studies and upcoming interventional trials in sarcoglycanopathies.
Center of Translational and Experimental Myology IRCCS Istituto Giannina Gaslini Genova Italy
Centro de Investigación Biomédica en Red en Enfermedades Raras Spain
Department of Human Genetics Ruhr University Bochum Germany
Department of Neurology Álvaro Cunqueiro Hospital Vigo Spain
Department of Neurology Ghent University and University Hospital Ghent Ghent Belgium
Department of Neurology Hospital Universitario Nuestra Señora de la Candelaria Tenerife Spain
Department of Neurology University Hospitals Leuven KU Leuven Leuven Belgium
Department of Neuropediatrics Charité Universitätsmedizin Berlin Berlin Germany
Department of Neuroscience University of Padova Padova Italy
Department of Precision Medicine University of Campania Naples Italy
Integrare Inserm Généthon Univ Evry Université Paris Saclay 91002 Evry France
Laboratory for Muscle Diseases and Neuropathies Department of Neurosciences KU Leuven Leuven Belgium
Neuromuscular Disorder Unit Hospital Sant Joan de Deu Barcelona Spain
Neuromuscular Reference Center Department of Neurology Antwerp University Hospital Antwerp Belgium
Neuromuscular Research Center University of Tampere and Tampere University Hospital Tampere Finland
Neuropediatric Department Centro Hospitalar do Porto Porto Portugal
Neurosciences BioDonostia Health Research Institute Hospital Donostia San Sebastián Spain
UOC Neurologia Fondazione Policlinico Universitario A Gemelli IRCCS Roma Italy
Citace poskytuje Crossref.org
- 000
- 00000naa a2200000 a 4500
- 001
- bmc21012181
- 003
- CZ-PrNML
- 005
- 20210713124405.0
- 007
- ta
- 008
- 210420s2020 xxk f 000 0|eng||
- 009
- AR
- 024 7_
- $a 10.1093/brain/awaa228 $2 doi
- 035 __
- $a (PubMed)32875335
- 040 __
- $a ABA008 $b cze $d ABA008 $e AACR2
- 041 0_
- $a eng
- 044 __
- $a xxk
- 100 1_
- $a Alonso-Pérez, Jorge $u Neuromuscular Diseases Unit, Department of Neurology, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain
- 245 10
- $a New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy / $c J. Alonso-Pérez, L. González-Quereda, L. Bello, M. Guglieri, V. Straub, P. Gallano, C. Semplicini, E. Pegoraro, V. Zangaro, A. Nascimento, C. Ortez, GP. Comi, LT. Dam, M. De Visser, AJ. van der Kooi, C. Garrido, M. Santos, U. Schara, A. Gangfuß, N. Løkken, JH. Storgaard, J. Vissing, B. Schoser, G. Dekomien, B. Udd, J. Palmio, A. D'Amico, L. Politano, V. Nigro, C. Bruno, C. Panicucci, A. Sarkozy, O. Abdel-Mannan, A. Alonso-Jimenez, KG. Claeys, D. Gomez-Andrés, F. Munell, L. Costa-Comellas, J. Haberlová, M. Rohlenová, V. Elke, JL. De Bleecker, C. Dominguez-González, G. Tasca, C. Weiss, N. Deconinck, R. Fernández-Torrón, A. López de Munain, A. Camacho-Salas, B. Melegh, K. Hadzsiev, L. Leonardis, B. Koritnik, M. Garibaldi, JC. de Leon-Hernández, E. Malfatti, A. Fraga-Bau, I. Richard, I. Illa, J. Díaz-Manera
- 520 9_
- $a Sarcoglycanopathies comprise four subtypes of autosomal recessive limb-girdle muscular dystrophies (LGMDR3, LGMDR4, LGMDR5 and LGMDR6) that are caused, respectively, by mutations in the SGCA, SGCB, SGCG and SGCD genes. In 2016, several clinicians involved in the diagnosis, management and care of patients with LGMDR3-6 created a European Sarcoglycanopathy Consortium. The aim of the present study was to determine the clinical and genetic spectrum of a large cohort of patients with sarcoglycanopathy in Europe. This was an observational retrospective study. A total of 33 neuromuscular centres from 13 different European countries collected data of the genetically confirmed patients with sarcoglycanopathy followed-up at their centres. Demographic, genetic and clinical data were collected for this study. Data from 439 patients from 13 different countries were collected. Forty-three patients were not included in the analysis because of insufficient clinical information available. A total of 159 patients had a confirmed diagnosis of LGMDR3, 73 of LGMDR4, 157 of LGMDR5 and seven of LGMDR6. Patients with LGMDR3 had a later onset and slower progression of the disease. Cardiac involvement was most frequent in LGMDR4. Sixty per cent of LGMDR3 patients carried one of the following mutations, either in a homozygous or heterozygous state: c.229C>T, c.739G>A or c.850C>T. Similarly, the most common mutations in LMGDR5 patients were c.525delT or c.848G>A. In LGMDR4 patients the most frequent mutation was c.341C>T. We identified onset of symptoms before 10 years of age and residual protein expression lower than 30% as independent risk factors for losing ambulation before 18 years of age, in LGMDR3, LGMDR4 and LGMDR5 patients. This study reports clinical, genetic and protein data of a large European cohort of patients with sarcoglycanopathy. Improving our knowledge about these extremely rare autosomal recessive forms of LGMD was helped by a collaborative effort of neuromuscular centres across Europe. Our study provides important data on the genotype-phenotype correlation that is relevant for the design of natural history studies and upcoming interventional trials in sarcoglycanopathies.
- 650 _2
- $a mladiství $7 D000293
- 650 _2
- $a dospělí $7 D000328
- 650 _2
- $a senioři $7 D000368
- 650 _2
- $a dítě $7 D002648
- 650 _2
- $a předškolní dítě $7 D002675
- 650 _2
- $a kohortové studie $7 D015331
- 650 _2
- $a ženské pohlaví $7 D005260
- 650 12
- $a genetické asociační studie $x metody $7 D056726
- 650 _2
- $a lidé $7 D006801
- 650 _2
- $a mužské pohlaví $7 D008297
- 650 _2
- $a lidé středního věku $7 D008875
- 650 _2
- $a pletencové svalové dystrofie $x diagnóza $x epidemiologie $x genetika $7 D049288
- 650 _2
- $a retrospektivní studie $7 D012189
- 650 _2
- $a sarkoglykanopatie $x diagnóza $x epidemiologie $x genetika $7 D058088
- 650 _2
- $a mladý dospělý $7 D055815
- 651 _2
- $a Evropa $x epidemiologie $7 D005060
- 655 _2
- $a časopisecké články $7 D016428
- 655 _2
- $a multicentrická studie $7 D016448
- 655 _2
- $a pozorovací studie $7 D064888
- 655 _2
- $a práce podpořená grantem $7 D013485
- 700 1_
- $a González-Quereda, Lidia $u U705 CIBERER, Genetics Department, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Spain ; Centro de Investigación Biomédica en Red en Enfermedades Raras (CIBERER), Spain
- 700 1_
- $a Bello, Luca $u Department of Neuroscience, University of Padova, Padova, Italy
- 700 1_
- $a Guglieri, Michela $u John Walton Muscular Dystrophy Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle Upon Tyne, UK
- 700 1_
- $a Straub, Volker $u John Walton Muscular Dystrophy Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle Upon Tyne, UK
- 700 1_
- $a Gallano, Pia $u U705 CIBERER, Genetics Department, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Spain $u Centro de Investigación Biomédica en Red en Enfermedades Raras (CIBERER), Spain
- 700 1_
- $a Semplicini, Claudio $u Department of Neuroscience, University of Padova, Padova, Italy
- 700 1_
- $a Pegoraro, Elena $u Department of Neuroscience, University of Padova, Padova, Italy
- 700 1_
- $a Zangaro, Vittoria $u Department of Neuroscience, University of Padova, Padova, Italy
- 700 1_
- $a Nascimento, Andrés $u Neuromuscular Disorder Unit, Hospital Sant Joan de Deu, Barcelona, Spain
- 700 1_
- $a Ortez, Carlos $u Neuromuscular Disorder Unit, Hospital Sant Joan de Deu, Barcelona, Spain
- 700 1_
- $a Comi, Giacomo Pietro $u Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Dino Ferrari Centre, University of Milan, Milan, Italy
- 700 1_
- $a Dam, Leroy Ten $u Department of Neurology, Amsterdam UMC, University of Amsterdam, Amsterdam Neuroscience, Amsterdam, The Netherlands
- 700 1_
- $a De Visser, Marianne $u Department of Neurology, Amsterdam UMC, University of Amsterdam, Amsterdam Neuroscience, Amsterdam, The Netherlands
- 700 1_
- $a van der Kooi, A J $u Department of Neurology, Amsterdam UMC, University of Amsterdam, Amsterdam Neuroscience, Amsterdam, The Netherlands
- 700 1_
- $a Garrido, Cristina $u Neuropediatric Department, Centro Hospitalar do Porto, Porto, Portugal
- 700 1_
- $a Santos, Manuela $u Neuropediatric Department, Centro Hospitalar do Porto, Porto, Portugal
- 700 1_
- $a Schara, Ulrike $u Neuromuscular Centre for Children and Adolescents, Department of Paediatric Neurology, University Hospital Essen, Essen, Germany
- 700 1_
- $a Gangfuß, Andrea $u Neuromuscular Centre for Children and Adolescents, Department of Paediatric Neurology, University Hospital Essen, Essen, Germany
- 700 1_
- $a Løkken, Nicoline $u Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet and University of Copenhagen, Copenhagen, Denmark
- 700 1_
- $a Storgaard, Jesper Helbo $u Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet and University of Copenhagen, Copenhagen, Denmark
- 700 1_
- $a Vissing, John $u Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet and University of Copenhagen, Copenhagen, Denmark
- 700 1_
- $a Schoser, Benedikt $u Friedrich-Baur-Institute, Department of Neurology Klinikum München Ludwig-Maximilians-University Munich, Munich, Germany
- 700 1_
- $a Dekomien, Gabriele $u Department of Human Genetics, Ruhr-University Bochum, Germany
- 700 1_
- $a Udd, Bjarne $u Neuromuscular Research Center, University of Tampere and Tampere University Hospital, Tampere, Finland
- 700 1_
- $a Palmio, Johanna $u Neuromuscular Research Center, University of Tampere and Tampere University Hospital, Tampere, Finland
- 700 1_
- $a D'Amico, Adele $u Unit of Neuromuscular and Neurodegenerative Diseases, Department of Neurosciences, Bambino Gesù Children's Hospital, Rome, Italy
- 700 1_
- $a Politano, Luisa $u Cardiomiology and Medical Genetics, Department of Experimental Medicine, University of Campania, Naples, Italy
- 700 1_
- $a Nigro, Vincenzo $u Department of Precision Medicine - University of Campania, Naples, Italy
- 700 1_
- $a Bruno, Claudio $u Center of Translational and Experimental Myology, IRCCS Istituto Giannina Gaslini, Genova, Italy
- 700 1_
- $a Panicucci, Chiara $u Center of Translational and Experimental Myology, IRCCS Istituto Giannina Gaslini, Genova, Italy
- 700 1_
- $a Sarkozy, Anna $u Dubowitz Neuromuscular Centre, MRC Centre for Neuromuscular Diseases, UCL Great Ormond Street Institute of Child Health, London, UK
- 700 1_
- $a Abdel-Mannan, Omar $u Dubowitz Neuromuscular Centre, MRC Centre for Neuromuscular Diseases, UCL Great Ormond Street Institute of Child Health, London, UK
- 700 1_
- $a Alonso-Jimenez, Alicia $u Neuromuscular Reference Center, Department of Neurology, Antwerp University Hospital, Antwerp, Belgium
- 700 1_
- $a Claeys, Kristl G $u Department of Neurology, University Hospitals Leuven, KU Leuven, Leuven, Belgium $u Laboratory for Muscle Diseases and Neuropathies, Department of Neurosciences, KU Leuven, Leuven, Belgium
- 700 1_
- $a Gomez-Andrés, David $u Paediatric Neuromuscular disorders Unit, Pediatric Neurology, Vall d'Hebron University Hospital and Vall d'Hebron Institute of Research (VHIR), Barcelona, Spain
- 700 1_
- $a Munell, Francina $u Paediatric Neuromuscular disorders Unit, Pediatric Neurology, Vall d'Hebron University Hospital and Vall d'Hebron Institute of Research (VHIR), Barcelona, Spain
- 700 1_
- $a Costa-Comellas, Laura $u Paediatric Neuromuscular disorders Unit, Pediatric Neurology, Vall d'Hebron University Hospital and Vall d'Hebron Institute of Research (VHIR), Barcelona, Spain
- 700 1_
- $a Haberlová, Jana $u Department of Child Neurology, Charles University, 2nd Medical School, University Hospital Motol, Prague, Czech Republic
- 700 1_
- $a Rohlenová, Marie $u Department of Child Neurology, Charles University, 2nd Medical School, University Hospital Motol, Prague, Czech Republic
- 700 1_
- $a Elke, De Vos $u Department of Neurology, Ghent University and University Hospital Ghent, Ghent, Belgium
- 700 1_
- $a De Bleecker, Jan L $u Department of Neurology, Ghent University and University Hospital Ghent, Ghent, Belgium
- 700 1_
- $a Dominguez-González, Cristina $u Department of Neuroscience, University of Padova, Padova, Italy $u Neuromuscular Unit, Department of Neurology, Hospital Universitario 12 de Octubre, Instituto de Investigación imas12, Madrid, Spain
- 700 1_
- $a Tasca, Giorgio $u UOC Neurologia, Fondazione Policlinico Universitario A. Gemelli IRCCS, Roma, Italy
- 700 1_
- $a Weiss, Claudia $u Department of Neuropediatrics, Charité - Universitätsmedizin Berlin, Berlin, Germany
- 700 1_
- $a Deconinck, Nicolas $u Department of Neurology, Queen Fabiola Children's University Hospital (HUDERF), Free University of Brussels, Brussels, Belgium
- 700 1_
- $a Fernández-Torrón, Roberto $u Neurosciences, BioDonostia Health Research Institute, Hospital Donostia, San Sebastián, Spain
- 700 1_
- $a López de Munain, Adolfo $u Neurosciences, BioDonostia Health Research Institute, Hospital Donostia, San Sebastián, Spain
- 700 1_
- $a Camacho-Salas, Ana $u Division of Child Neurology, Hospital Universitario 12 de Octubre, Universidad Complutense de Madrid, Madrid, Spain
- 700 1_
- $a Melegh, Béla $u Department of Medical Genetics, and Szentagothai Research Center, University of Pécs, School of Medicine, Pécs, Hungary
- 700 1_
- $a Hadzsiev, Kinga $u Department of Medical Genetics, and Szentagothai Research Center, University of Pécs, School of Medicine, Pécs, Hungary
- 700 1_
- $a Leonardis, Lea $u Institute of Clinical Neurophysiology, University Medical Centre, Department of Neurology, Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia
- 700 1_
- $a Koritnik, Blaz $u Institute of Clinical Neurophysiology, University Medical Centre, Department of Neurology, Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia
- 700 1_
- $a Garibaldi, Matteo $u Neuromuscular and Rare Disease Center, Department of Neurosciences, Mental Health and Sensory Organs (NESMOS), SAPIENZA Università di Roma, Rome, Italy
- 700 1_
- $a de Leon-Hernández, Juan Carlos $u Department of Neurology, Hospital Universitario Nuestra Señora de la Candelaria, Tenerife, Spain
- 700 1_
- $a Malfatti, Edoardo $u Department of Neurology, Raymond-Poincaré teaching hospital, centre de référence des maladies neuromusculaires Nord/Est/Ile-de-France, AP-HP, Garches, France
- 700 1_
- $a Fraga-Bau, Arturo $u Department of Neurology, Álvaro Cunqueiro Hospital, Vigo, Spain
- 700 1_
- $a Richard, Isabelle $u Integrare (UMR_S951), Inserm, Généthon, Univ Evry, Université Paris-Saclay, 91002, Evry, France
- 700 1_
- $a Illa, Isabel $u Neuromuscular Diseases Unit, Department of Neurology, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain $u Department of Neuroscience, University of Padova, Padova, Italy
- 700 1_
- $a Díaz-Manera, Jordi $u Neuromuscular Diseases Unit, Department of Neurology, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain $u U705 CIBERER, Genetics Department, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Spain $u John Walton Muscular Dystrophy Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle Upon Tyne, UK
- 773 0_
- $w MED00009356 $t Brain : a journal of neurology $x 1460-2156 $g Roč. 143, č. 9 (2020), s. 2696-2708
- 856 41
- $u https://pubmed.ncbi.nlm.nih.gov/32875335 $y Pubmed
- 910 __
- $a ABA008 $b sig $c sign $y p $z 0
- 990 __
- $a 20210420 $b ABA008
- 991 __
- $a 20210713124402 $b ABA008
- 999 __
- $a ok $b bmc $g 1650537 $s 1132560
- BAS __
- $a 3
- BAS __
- $a PreBMC
- BMC __
- $a 2020 $b 143 $c 9 $d 2696-2708 $e 20200901 $i 1460-2156 $m Brain $n Brain $x MED00009356
- LZP __
- $a Pubmed-20210420
