Epidemiologia genética da esclerose lateral amiotrófica
Amyotrophic lateral sclerosis (ALS) is a well known rapidly progressive and fatal neurological disease, caused by the loss of motor neurons in the brain and spinal cord. Familial aggregation of ALS is considered a major risk factor for ALS. Familial ALS (FALS) is clinically and genetically heterogen...
| Autor principal: | SANTOS, Antonio Emanuel dos |
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| Outros Autores: | SOUZA, Kedson Abreu |
| Grau: | Trabalho de Conclusão de Curso - Graduação |
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2022
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https://bdm.ufpa.br:8443/jspui/handle/prefix/4654 |
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oai:https:--bdm.ufpa.br:8443:prefix-46542022-11-09T03:06:28Z Epidemiologia genética da esclerose lateral amiotrófica SANTOS, Antonio Emanuel dos SOUZA, Kedson Abreu BASTOS, Albedy Moreira http://lattes.cnpq.br/2252894795441323 https://orcid.org/0000-0003-2760-1941 Esclerose lateral amiotrófica Neurodegeneração Neurônios motores Amyotrophic lateral sclerosis Neurodegeneration Motor neurons CNPQ::CIENCIAS DA SAUDE::MEDICINA Amyotrophic lateral sclerosis (ALS) is a well known rapidly progressive and fatal neurological disease, caused by the loss of motor neurons in the brain and spinal cord. Familial aggregation of ALS is considered a major risk factor for ALS. Familial ALS (FALS) is clinically and genetically heterogeneous. Seven genes and linkage to five additional gene loci have been identified so far and may either lead to ALS (ALS1-ALS8) or multisystem neurodegeneration with ALS as an occasional symptom. This work points to present a tentative classification of the “major” and “susceptibility” ALS genes, that may act as susceptibility factors for neurodegeneration in interaction with other genetic or environmental risk factors. Since mutations in ALS genes explain approximately 10% of either familial and sporadic ALS, and most remaining cases are results of the interaction of several genes and environmental factors, ALS is still a paradigm in multifactorial diseases research. A esclerose lateral amiotrófica (ELA) é uma doença neurológica rapidamente progressiva e fatal, bem conhecida, causada pela perda de neurônios motores cerebrais e espinhais. A agregação familiar da ELA é considerada um fator de risco maior para o desenvolvimento da doença. A ELA familiar (ELAF) é clinica e geneticamente heterogênea. Sete genes e relações com outros 5 loci foram identificados até o momento e podem tanto causar a ELA, quanto levar à neurodegeneração multissistêmica, tendo a ELA como um sintoma ocasional. Este trabalho objetiva apresentar uma tentativa de classificação dos genes “maiores” e de “susceptibilidade” para o desenvolvimento da ELA, os quais podem atuar como fatores de susceptibilidade para a neurodegeneração em interação com outros fatores de risco, genéticos ou ambientais. Considerando que as mutações nos genes da ELA explicam aproximadamente 10% dos casos, tanto de ELA familiar quanto de ELA esporádica, e que a maioria dos casos restantes são resultados da interação entre diversos genes e fatores ambientais, a ELA continua sendo um paradigma na pesquisa de doenças multifatoriais. 2022-11-08T18:26:03Z 2022-11-08T18:26:03Z 2006 Trabalho de Conclusão de Curso - Graduação SANTOS, Antonio Emanuel dos: SOUZA, Kedson Abreu. Epidemiologia genética da esclerose lateral amiotrófica. Orientador: Albedy Moreira Bastos. 2006. 58 f. Trabalho de Conclusão de Curso (Bacharelado em Medicina) - Faculdade de Medicina, Instituto de Ciências da Saúde, Universidade Federal do Pará, Belém, 2006. Disponível em:https://bdm.ufpa.br:8443/jspui/handle/prefix/4654. Acesso em:. https://bdm.ufpa.br:8443/jspui/handle/prefix/4654 Acesso Aberto 1 CD ROM |
| institution |
Biblioteca Digital de Monografias - UFPA |
| collection |
MonografiaUFPA |
| topic |
Esclerose lateral amiotrófica Neurodegeneração Neurônios motores Amyotrophic lateral sclerosis Neurodegeneration Motor neurons CNPQ::CIENCIAS DA SAUDE::MEDICINA |
| spellingShingle |
Esclerose lateral amiotrófica Neurodegeneração Neurônios motores Amyotrophic lateral sclerosis Neurodegeneration Motor neurons CNPQ::CIENCIAS DA SAUDE::MEDICINA SANTOS, Antonio Emanuel dos Epidemiologia genética da esclerose lateral amiotrófica |
| topic_facet |
Esclerose lateral amiotrófica Neurodegeneração Neurônios motores Amyotrophic lateral sclerosis Neurodegeneration Motor neurons CNPQ::CIENCIAS DA SAUDE::MEDICINA |
| description |
Amyotrophic lateral sclerosis (ALS) is a well known rapidly progressive and fatal neurological disease, caused by the loss of motor neurons in the brain and spinal cord. Familial aggregation of ALS is considered a major risk factor for ALS. Familial ALS (FALS) is clinically and genetically heterogeneous. Seven genes and linkage to five additional gene loci have been identified so far and may either lead to ALS (ALS1-ALS8) or multisystem neurodegeneration with ALS as an occasional symptom. This work points to present a tentative classification of the “major” and “susceptibility” ALS genes, that may act as susceptibility factors for neurodegeneration in interaction with other genetic or environmental risk factors. Since mutations in ALS genes explain approximately 10% of either familial and sporadic ALS, and most remaining cases are results of the interaction of several genes and environmental factors, ALS is still a paradigm in multifactorial diseases research. |
| author_additional |
BASTOS, Albedy Moreira |
| author_additionalStr |
BASTOS, Albedy Moreira |
| format |
Trabalho de Conclusão de Curso - Graduação |
| author |
SANTOS, Antonio Emanuel dos |
| author2 |
SOUZA, Kedson Abreu |
| author2Str |
SOUZA, Kedson Abreu |
| title |
Epidemiologia genética da esclerose lateral amiotrófica |
| title_short |
Epidemiologia genética da esclerose lateral amiotrófica |
| title_full |
Epidemiologia genética da esclerose lateral amiotrófica |
| title_fullStr |
Epidemiologia genética da esclerose lateral amiotrófica |
| title_full_unstemmed |
Epidemiologia genética da esclerose lateral amiotrófica |
| title_sort |
epidemiologia genética da esclerose lateral amiotrófica |
| publishDate |
2022 |
| url |
https://bdm.ufpa.br:8443/jspui/handle/prefix/4654 |
| _version_ |
1787155336162967552 |
| score |
11.755432 |