EDMAR ZANOTELI

(Fonte: Lattes)
Índice h a partir de 2011
24
Lattes
ORCID
Projetos de Pesquisa
Unidades Organizacionais
Departamento de Neurologia, Faculdade de Medicina - Docente
Instituto Central, Hospital das Clínicas, Faculdade de Medicina - Médico
LIM/45 - Laboratório de Fisiopatologia Neurocirúrgica, Hospital das Clínicas, Faculdade de Medicina
LIM/15 - Laboratório de Investigação em Neurologia, Hospital das Clínicas, Faculdade de Medicina

Filtros

Limpar filtros

Configurações

Indexador: Dimensions ×

Resultados de Busca

Agora exibindo 1 - 4 de 4
  • article 0 Citação(ões) na Scopus
    Consensus from the Brazilian Academy of Neurology for the diagnosis, genetic counseling, and use of disease-modifying therapies in 5q spinal muscular atrophy
    (2024) ZANOTELI, Edmar; ARAUJO, Alexandra Prufer de Queiroz Campos; BECKER, Michele Michelin; FORTES, Clarisse Pereira Dias Drumond; FRANCA, Marcondes Cavalcante; MACHADO-COSTA, Marcela Camara; MARQUES JR., Wilson; MATSUI JR., Ciro; MENDONCA, Rodrigo Holanda; NARDES, Flavia; OLIVEIRA, Acary Souza Bulle; PESSOA, Andre Luis Santos; SAUTE, Jonas Alex Morales; SGOBBI, Paulo; LINDEN JR., Helio van der; GURGEL-GIANNETTI, Juliana
    Spinal muscular atrophy linked to chromosome 5 (SMA-5q) is an autosomal recessive genetic disease caused by mutations in the SMN1 . SMA-5q is characterized by progressive degeneration of the spinal cord and bulbar motor neurons, causing severe motor and respiratory impairment with reduced survival, especially in its more severe clinical forms. In recent years, highly effective disease-modifying therapies have emerged, either acting by regulating the splicing of exon 7 of the SMN2 gene or adding a copy of the SMN1 gene through gene therapy, providing a drastic change in the natural history of the disease. In this way, developing therapeutic guides and expert consensus becomes essential to direct the use of these therapies in clinical practice. This consensus, prepared by Brazilian experts, aimed to review the main available disease-modifying therapies, critically analyze the results of clinical studies, and provide recommendations for their use in clinical practice for patients with SMA-5q. This consensus also addresses aspects related to diagnosis, genetic counseling, and follow-up of patients under drug treatment. Thus, this consensus provides valuable information regarding the current management of SMA-5q, helping therapeutic decisions in clinical practice and promoting additional gains in outcomes.
  • article 0 Citação(ões) na Scopus
    Marked neuropsychiatric involvement and dysmorphic features in nemaline myopathy
    (2024) NOBREGA, Paulo Ribeiro; SOUZA, Jorge Luiz de Brito de; MAURICIO, Rebeca Bessa; PAIVA, Anderson Rodrigues Brandao de; DIAS, Daniel Aguiar; CAMELO, Clara Gontijo; ZANOTELLI, Edmar; SCHLESINGER, David; BRAGA-NETO, Pedro; MORENO, Cristiane Araujo Martins
    Background Inherited nemaline myopathy is one of the most common congenital myopathies. This genetically heterogeneous disease is defined by the presence of nemaline bodies in muscle biopsy. The phenotypic spectrum is wide and cognitive involvement has been reported, although not extensively evaluated.Methods We report two nemaline myopathy patients presenting pronounced central nervous system involvement leading to functional compromise and novel facial and skeletal dysmorphic findings, possibly expanding the disease phenotype.Results One patient had two likely pathogenic NEB variants, c.2943G > A and c.8889 + 1G > A, and presented cognitive impairment and dysmorphic features, and the other had one pathogenic variant in ACTA1, c.169G > C (p.Gly57Arg), presenting autism spectrum disorder and corpus callosum atrophy. Both patients had severe cognitive involvement despite milder motor dysfunction.Conclusion We raise the need for further studies regarding the role of thin filament proteins in the central nervous system and for a systematic cognitive assessment of congenital myopathy patients.
  • article 0 Citação(ões) na Scopus
    Gene-based therapies for neuromuscular disorders
    (2024) ZANOTELI, Edmar; JR, Marcondes Cavalcante Franca; JR, Wilson Marques
    Neuromuscular diseases (NMD) include a broad group of medical conditions with both acquired and genetic causes. In recent years, important advances have been made in the treatment of genetically caused NMD, and most of these advances are due to the implementation of therapies aimed at gene regulation. Among these therapies, gene replacement, small interfering RNA (siRNA), and antisense antinucleotides are the most promising approaches. More importantly, some of these therapies have already gained regulatory approval or are in the final stages of approval. The review focuses on motor neuron diseases, neuropathies, and Duchenne muscular dystrophy, summarizing the most recent developments in gene-based therapies for these conditions.
  • article 0 Citação(ões) na Scopus
    Mutations in PTPN11 could lead to a congenital myasthenic syndrome phenotype: a Noonan syndrome case series
    (2024) PUGLIESE, Alessia; MARINA, Adela Della; ESTEPHAN, Eduardo de Paula; ZANOTELI, Edmar; ROOS, Andreas; SCHARA-SCHMIDT, Ulrike; HENTSCHEL, Andreas; AZUMA, Yoshiteru; TOPF, Ana; THOMPSON, Rachel; POLAVARAPU, Kiran; LOCHMUELLER, Hanns
    The RASopathies are a group of genetic rare diseases caused by mutations affecting genes involved in the RAS/MAPK (RAS-mitogen activated protein kinase) pathway. Among them, PTPN11 pathogenic variants are responsible for approximately 50% of Noonan syndrome (NS) cases and, albeit to a lesser extent, of Leopard syndrome (LPRD1), which present a few overlapping clinical features, such as facial dysmorphism, developmental delay, cardiac defects, and skeletal deformities. Motor impairment and decreased muscle strength have been recently reported. The etiology of the muscle involvement in these disorders is still not clear but probably multifactorial, considering the role of the RAS/MAPK pathway in skeletal muscle development and Acetylcholine Receptors (AChR) clustering at the neuromuscular junction (NMJ). We report, herein, four unrelated children carrying three different heterozygous mutations in the PTPN11 gene. Intriguingly, their phenotypic features first led to a clinical suspicion of congenital myasthenic syndrome (CMS), due to exercise-induced fatigability with a variable degree of muscle weakness, and serum proteomic profiling compatible with a NMJ defect. Moreover, muscle fatigue improved after treatment with CMS-specific medication. Although the link between PTPN11 gene and neuromuscular transmission is unconfirmed, an increasing number of patients with RASopathies are affected by muscle weakness and fatigability. Hence, NS or LPDR1 should be considered in children with suspected CMS but negative genetic workup for known CMS genes or additional symptoms indicative of NS, such as facial dysmorphism or intellectual disability.