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| Schuler-Faccini,Lavínia; Osorio,Claudio Maria; Romariz,Flavia; Paneque,Milena; Sequeiros,Jorge; Jardim,Laura Bannach. |
| Machado-Joseph disease (MJD) is an autosomal dominant, late-onset neurological disorder and the most common form of spinocerebellar ataxia (SCA) worldwide. Diagnostic genetic testing is available to detect the disease-causing mutation by direct sizing of the CAG repeat tract in the ataxin 3 gene. Presymptomatic testing (PST) can be used to identify persons at risk of developing the disease. Genetic counseling provides patients with information about the disease, genetic risks, PST, and the decision-making process. In this study, we present the protocol used in PST for MJD and the relevant observations from two centers: Brazil (Porto Alegre) and Portugal (Porto). We provide a case report that illustrates the significant ethical and psychological issues... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: SCA3; Machado-Joseph; Presymptomatic test; Ataxia; Genetic testing; Psychosocial; Psychological issues. |
| Ano: 2014 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572014000200012 |
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| Busato,E.M.; Sousa,R.S.; Silva-Meirelles,J.R.; Castro,M.L.; Deconto,I.; Dornbusch,P.T.. |
| ABSTRACT This paper describes a case of malignant melanoma in brown coat horse, which had ataxia and proprioceptive deficits in hind limbs, progressing to permanent decubitus. The animal was euthanized and the final diagnosis was based on necropsy and histopathology. At necropsy different masses and / or nodules in skeletal muscle, bone, abdominal cavity, lungs, heart, spleen, liver, adrenal gland, lymph nodes, brain and cerebellum were found. Neurological clinical signs presented by the animal were justified by spinal cord compression caused by melanocytic mass invading the medullary canal of the flow segment of the thoracic spine (between 15th and 18th thoracic vertebrae). This is the first case report of melanoma leading to spinal cord compression in a... |
| Tipo: Info:eu-repo/semantics/other |
Palavras-chave: Ataxia; Neoplasia equina; Melanócitos. |
| Ano: 2017 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0102-09352017000501346 |
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| Prates,Klaus Scherer; Bianchi,Matheus Viezzer; Mello,Lauren Santos de; Matesco,Viviana Cauduro; Lorenzo,Cíntia de; Driemeier,David; Pavarini,Saulo Petinatti. |
| ABSTRACT: Meningiomas are the most frequent neoplasms involving the brain in dogs and cats, and are occasionally observed in the spinal cord. They cause compression of the central nervous system; however, do not infiltrate the neuropile and rarely metastasize to other organs. The present study describes a case of anaplastic spinal meningioma with extra neural metastasis in a 20 years-old cat. Clinically, the feline presented a clinical history of 120 days with paresis of the hind limbs and loss of the tail’s movements, with subsequent death. At necropsy, there was an irregular and soft whitish mass involving the meninges from the lumbar intumescence to the sacral region of the spinal cord. Similar white nodular masses were observed in the lungs, liver and... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Ataxia; Immunohistochemistry; Spinal cord; Meningioma; Metastasis; Central nervous system. |
| Ano: 2018 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0103-84782018000700550 |
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