Clarissa Helena Santana, Ayisa Rodrigues Oliveira, Lucas dos Reis de Souza, Thaynara Parente de Carvalho, Fernanda Mara Aragão Macedo Pereira, Laice Alves da Silva, Samantha Pinheiro Pimentel, Daniel Oliveira dos Santos, Lauro Leite Soares-, Andressa Quinalia Courbilly, Jéssica Magalhães da Silva, Tatiane Alves da Paixão, Renato Lima Santos
{"title":"Lafora’s disease in a free-ranging toco toucan (Ramphastos toco) with neurologic disease","authors":"Clarissa Helena Santana, Ayisa Rodrigues Oliveira, Lucas dos Reis de Souza, Thaynara Parente de Carvalho, Fernanda Mara Aragão Macedo Pereira, Laice Alves da Silva, Samantha Pinheiro Pimentel, Daniel Oliveira dos Santos, Lauro Leite Soares-, Andressa Quinalia Courbilly, Jéssica Magalhães da Silva, Tatiane Alves da Paixão, Renato Lima Santos","doi":"10.24070/bjvp.1983-0246.v16i2p144-147","DOIUrl":null,"url":null,"abstract":"Lafora’s disease is a genetic disease associated to mutations in genes that encodes laforin and malin, which results in intracellular polyglucan storage. The present report describes a case of Lafora’s disease in a toco toucan with episodes of incoordination and myoclonus that resulted in traumatic lesions and fracture of the left hindlimb. The bird was euthanized and submitted to necropsy. Microscopically there were abundant PAS-positive and diastasis-resistant Lafora’s inclusion bodies in neurons in the cerebellum, supporting the diagnosis of Lafora’s disease.","PeriodicalId":9223,"journal":{"name":"Brazilian Journal of Veterinary Pathology","volume":null,"pages":null},"PeriodicalIF":0.0000,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Brazilian Journal of Veterinary Pathology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.24070/bjvp.1983-0246.v16i2p144-147","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"Veterinary","Score":null,"Total":0}
引用次数: 0
Abstract
Lafora’s disease is a genetic disease associated to mutations in genes that encodes laforin and malin, which results in intracellular polyglucan storage. The present report describes a case of Lafora’s disease in a toco toucan with episodes of incoordination and myoclonus that resulted in traumatic lesions and fracture of the left hindlimb. The bird was euthanized and submitted to necropsy. Microscopically there were abundant PAS-positive and diastasis-resistant Lafora’s inclusion bodies in neurons in the cerebellum, supporting the diagnosis of Lafora’s disease.
期刊介绍:
The Brazilian Journal of Veterinary Pathology is the official electronic periodical of the Brazilian Association of Veterinary Pathology. The purpose of the BJVP is to publish original full papers, short communications, case reports, letters, reviews (by invited experts) and abstracts of scientific meetings. The preferable subjects is natural and experimental pathology. All the articles are submitted to scientific reviewers.