Clinical and molecular findings in a cohort of ANO5-related myopathy
| Autor: | Laís Uyeda Aivazoglou, Edmar Zanoteli, Bruno de Mattos Lombardi Badia, Antônio R. Coimbra-Neto, André Macedo Serafim da Silva, Paulo Victor Sgobbi de Souza, Acary Souza Bulle Oliveira, Pablo Brea Winckler, Vanessa C. Pereira, Umbertina Conti Reed, Wladimir Bocca Vieira de Rezende Pinto, Luiz H. Libardi, Paulo Victor Partezani Helito, Marcus Goncalves, Mario Emílio Teixeira Dourado-Júnior, Anamarli Nucci, Amaro J. S. D. Camargo, Marcondes Cavalcante França-Junior, Marcelo Maroco Cruzeiro, Leonardo Valente de Camargo, Marcela C. Machado-Costa, Mario Teruo Yanagiura, Eduardo de Paula Estephan, Jonas Alex Morales Saute, Hudson H. Gomes, Rodrigo de Holanda Mendonça, Eduardo B. U. Cavalcanti, Cláudia Ferreira da Rosa Sobreira, Clara Gontijo Camelo, Alzira Alves de Siqueira Carvalho |
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| Přispěvatelé: | Universidade de São Paulo (USP), Universidade Estadual de Campinas (UNICAMP), Universidade Federal de São Paulo (UNIFESP), Hospital de Clínicas de Porto Alegre (HCPA), Universidade da Região de Joinville (UNIVILLE), Rede Sarah de Hospitais de Reabilitação, Faculdade de Medicina do ABC, Escola Bahiana de Medicina e Saúde Pública, Universidade Federal do Rio Grande do Norte, Universidade Estadual Paulista (Unesp), Universidade Federal de Juiz de Fora (UFJF), Pontifícia Universidade Católica do Paraná, Universidade Federal do Rio Grande do Sul |
| Jazyk: | angličtina |
| Rok vydání: | 2019 |
| Předmět: |
Adult
Male 0301 basic medicine medicine.medical_specialty Adolescent Population Anoctamins Neurosciences. Biological psychiatry. Neuropsychiatry Disease Asymptomatic Cohort Studies Young Adult 03 medical and health sciences 0302 clinical medicine Muscular Diseases Internal medicine Genotype medicine Humans Muscular dystrophy Child Muscle Skeletal education Myopathy RC346-429 Research Articles Aged education.field_of_study business.industry General Neuroscience Middle Aged medicine.disease Cross-Sectional Studies Phenotype 030104 developmental biology Muscular Dystrophies Limb-Girdle Mutation Cohort Female Neurology (clinical) Neurology. Diseases of the nervous system medicine.symptom business Brazil 030217 neurology & neurosurgery Research Article Cohort study RC321-571 |
| Zdroj: | Scopus Repositório Institucional da UNESP Universidade Estadual Paulista (UNESP) instacron:UNESP Annals of Clinical and Translational Neurology, Vol 6, Iss 7, Pp 1225-1238 (2019) Annals of Clinical and Translational Neurology |
| Popis: | Made available in DSpace on 2019-10-06T16:41:11Z (GMT). No. of bitstreams: 0 Previous issue date: 2019-07-01 Objective: ANO5-related myopathy is an important cause of limb-girdle muscular dystrophy (LGMD) and hyperCKemia. The main descriptions have emerged from European cohorts, and the burden of the disease worldwide is unclear. We provide a detailed characterization of a large Brazilian cohort of ANO5 patients. Methods: A national cross-sectional study was conducted to describe clinical, histopathological, radiological, and molecular features of patients carrying recessive variants in ANO5. Correlation of clinical and genetic characteristics with different phenotypes was studied. Results: Thirty-seven patients from 34 nonrelated families with recessive mutations of ANO5 were identified. The most common phenotype was LGMD, observed in 25 (67.5%) patients, followed by pseudometabolic presentation in 7 (18.9%) patients, isolated asymptomatic hyperCKemia in 4 (10.8%) patients, and distal myopathy in a single patient. Nine patients presented axial involvement, including one patient with isolated axial weakness. The most affected muscles according to MRI were the semimembranosus and gastrocnemius, but paraspinal and abdominal muscles, when studied, were involved in most patients. Fourteen variants in ANO5 were identified, and the c.191dupA was present in 19 (56%) families. Sex, years of disease, and the presence of loss-of-function variants were not associated with specific phenotypes. Interpretation: We present the largest series of anoctaminopathy outside Europe. The most common European founder mutation c.191dupA was very frequent in our population. Gender, disease duration, and genotype did not determine the phenotype. Department of Neurology Faculdade de Medicina Universidade de São Paulo Department of Neurology Faculdade de Ciências Médicas Universidade Estadual de Campinas Division of Neuromuscular Diseases Department of Neurology and Neurosurgery Universidade Federal de São Paulo (UNIFESP) Neurology Service Hospital de Clínicas de Porto Alegre (HCPA) Universidade da Região de Joinville (UNIVILLE) Rede Sarah de Hospitais de Reabilitação Faculdade de Medicina do ABC Departamento de Neurociências e Ciências do Comportamentom Faculdade de Medicina de Ribeirão Preto Universidade de São Paulo Escola Bahiana de Medicina e Saúde Pública Departamento de Medicina Integrada Universidade Federal do Rio Grande do Norte Department of Neurology Psychology and Psychiatry Botucatu School of Medicine Universidade Estadual Paulista Júlio Mesquita (UNESP) Division of Neuromuscular Diseases Department of Neurology and Neurosurgery Hospital Universitário Universidade Federal de Juiz de Fora (UFJF) Department of Radiology Faculdade de Medicina Universidade de São Paulo Department of Diagnostic Imaging Universidade Federal de São Paulo (UNIFESP) Pontifícia Universidade Católica do Paraná Orthopedic Institute Faculdade de Medicina Universidade de São Paulo Department of Internal Medicine Universidade Federal do Rio Grande do Sul Medical Genetics Service Hospital de Clínicas de Porto Alegre (HCPA) Department of Neurology Psychology and Psychiatry Botucatu School of Medicine Universidade Estadual Paulista Júlio Mesquita (UNESP) |
| Databáze: | OpenAIRE |
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