Clinical and genetic basis of familial amyotrophic lateral sclerosis
Amyotrophic lateral sclerosis represents the most common neurodegenerative disease leading to upper and lower motor neuron compromise. Although the vast majority of cases are sporadic, substantial gain has been observed in the knowledge of the genetic forms of the disease, especially of familial for...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
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Academia Brasileira de Neurologia (ABNEURO)
2015-01-01
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| Series: | Arquivos de Neuro-Psiquiatria |
| Subjects: | |
| Online Access: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2015005050161&lng=en&tlng=en |
| _version_ | 1818413819488108544 |
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| author | Paulo Victor Sgobbi de Souza Wladimir Bocca Vieira de Rezende Pinto Marco Antônio Troccoli Chieia Acary Souza Bulle Oliveira |
| author_facet | Paulo Victor Sgobbi de Souza Wladimir Bocca Vieira de Rezende Pinto Marco Antônio Troccoli Chieia Acary Souza Bulle Oliveira |
| author_sort | Paulo Victor Sgobbi de Souza |
| collection | DOAJ |
| description | Amyotrophic lateral sclerosis represents the most common neurodegenerative disease leading to upper and lower motor neuron compromise. Although the vast majority of cases are sporadic, substantial gain has been observed in the knowledge of the genetic forms of the disease, especially of familial forms. There is a direct correlation between the profile of the mutated genes in sporadic and familial forms, highlighting the main role ofC9orf72 gene in the clinical forms associated with frontotemporal dementia spectrum. The different genes related to familial and sporadic forms represent an important advance on the pathophysiology of the disease and genetic therapeutic perspectives, such as antisense therapy. The objective of this review is to signal and summarize clinical and genetic data related to familial forms of amyotrophic lateral sclerosis. |
| first_indexed | 2024-12-14T11:09:16Z |
| format | Article |
| id | doaj.art-a46ce37ff3a0465aa738dac4e0923a68 |
| institution | Directory Open Access Journal |
| issn | 1678-4227 |
| language | English |
| last_indexed | 2024-12-14T11:09:16Z |
| publishDate | 2015-01-01 |
| publisher | Academia Brasileira de Neurologia (ABNEURO) |
| record_format | Article |
| series | Arquivos de Neuro-Psiquiatria |
| spelling | doaj.art-a46ce37ff3a0465aa738dac4e0923a682022-12-21T23:04:23ZengAcademia Brasileira de Neurologia (ABNEURO)Arquivos de Neuro-Psiquiatria1678-42272015-01-0100010.1590/0004-282X20150161S0004-282X2015005050161Clinical and genetic basis of familial amyotrophic lateral sclerosisPaulo Victor Sgobbi de SouzaWladimir Bocca Vieira de Rezende PintoMarco Antônio Troccoli ChieiaAcary Souza Bulle OliveiraAmyotrophic lateral sclerosis represents the most common neurodegenerative disease leading to upper and lower motor neuron compromise. Although the vast majority of cases are sporadic, substantial gain has been observed in the knowledge of the genetic forms of the disease, especially of familial forms. There is a direct correlation between the profile of the mutated genes in sporadic and familial forms, highlighting the main role ofC9orf72 gene in the clinical forms associated with frontotemporal dementia spectrum. The different genes related to familial and sporadic forms represent an important advance on the pathophysiology of the disease and genetic therapeutic perspectives, such as antisense therapy. The objective of this review is to signal and summarize clinical and genetic data related to familial forms of amyotrophic lateral sclerosis.http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2015005050161&lng=en&tlng=enesclerose lateral amiotróficadoença do neurônio motorneurogenéticaneurodegeneraçãogene C9orf72 |
| spellingShingle | Paulo Victor Sgobbi de Souza Wladimir Bocca Vieira de Rezende Pinto Marco Antônio Troccoli Chieia Acary Souza Bulle Oliveira Clinical and genetic basis of familial amyotrophic lateral sclerosis Arquivos de Neuro-Psiquiatria esclerose lateral amiotrófica doença do neurônio motor neurogenética neurodegeneração gene C9orf72 |
| title | Clinical and genetic basis of familial amyotrophic lateral sclerosis |
| title_full | Clinical and genetic basis of familial amyotrophic lateral sclerosis |
| title_fullStr | Clinical and genetic basis of familial amyotrophic lateral sclerosis |
| title_full_unstemmed | Clinical and genetic basis of familial amyotrophic lateral sclerosis |
| title_short | Clinical and genetic basis of familial amyotrophic lateral sclerosis |
| title_sort | clinical and genetic basis of familial amyotrophic lateral sclerosis |
| topic | esclerose lateral amiotrófica doença do neurônio motor neurogenética neurodegeneração gene C9orf72 |
| url | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2015005050161&lng=en&tlng=en |
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